Mutation details:

Protein level identifier (NP_115785):

p.Cys388Arg

cDNA level identifier (NM_032409):

c.1162T>C

Gene level identifier:

g.15089T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:20975036 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

29

Phosphorylation activity:

Positive functional evidence:

22645651; 23256036; 23459931;

Number of all included cases:

4 homozygous (4 in total).