Mutation details:

Protein level identifier (NP_115785):

p.Gln126Pro

cDNA level identifier (NM_032409):

c.377A>C

Gene level identifier:

g.471A>C

Reference, alternative allele:

A, C

Genomic location hg(19)

1:20960418 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

12

Phosphorylation activity:

Positive functional evidence:

17989306; 20798600; 23303188; 23459931;

Number of all included cases:

3 homozygous (3 in total).