Mutation details:

Protein level identifier (NP_115785):

p.Leu77Pro

cDNA level identifier (NM_032409):

c.230T>C

Gene level identifier:

g.324T>C

Reference, alternative allele:

T, C

Genomic location hg(19)

1:20960271 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).