Mutation details:

Protein level identifier (NP_115785):

p.Gly386Ala

cDNA level identifier (NM_032409):

c.1157G>C

Gene level identifier:

g.15084G>C

Reference, alternative allele:

G, C

Genomic location hg(19)

1:20975031 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

17000703; 22645651; 22910362; 24189060;

Number of all included cases:

1 homozygous (1 in total).