Mutation details:

Protein level identifier (n.a.):

p.Leu166Pro

cDNA level identifier (n.a.):

c.497T>C

Gene level identifier:

g.30691T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:8045041 (not available on ExAC)

Gene name:

PARK7

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

14607841; 14713311; 15365989; 15790532; 18436956; 19680261; 20806408; 22173095; 23183826; 23326576; 24912681; 25058424; 25305074; 26370081; 26873851; 27346864;

Number of all included cases:

3 homozygous (3 in total).