Mutation details:

Protein level identifier (NP_071372):

p.Leu1059Arg

cDNA level identifier (NM_022089):

c.3176T>G

Gene level identifier:

g.25065T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

1:17313359 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

21542062; 22296644; 24334770; 24399444; 27039055; 27445146;

Number of all included cases:

2 compound heterozygous (2 in total).