Mutation details:

Protein level identifier (NP_115785):

p.Leu539Phe

cDNA level identifier (NM_032409):

c.1617G>C

Gene level identifier:

g.17108G>C

Archive identifier/Other designation:

p.L539F

Reference, alternative allele:

G, C

Genomic location hg(19)

1:20977055 (not available on ExAC)

Gene name:

PINK1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).