Mutation details:

Protein level identifier (NP_115785):

p.Thr313Met

cDNA level identifier (NM_032409):

c.938C>T

Gene level identifier:

g.11197C>T

Reference, alternative allele:

C, T

Genomic location hg(19)

1:20971144

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

22238344; 23303188; 23459931; 29255601;

Number of all included cases:

7 homozygous (7 in total).