Mutation details:

Protein level identifier (n.a.):

p.Leu172Gln

cDNA level identifier (n.a.):

c.515T>A

Gene level identifier:

g.30709T>A

Archive identifier/Other designation:

p.L172Q

Reference, alternative allele:

T, A

Genomic location hg(19)

1:8045059 (not available on ExAC)

Gene name:

PARK7

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).