Mutation details:

Protein level identifier (NP_071372):

p.Pro842Leu

cDNA level identifier (NM_022089):

c.2525C>T

Gene level identifier:

g.22038C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

1:17316386 (not available on ExAC)

Gene name:

ATP13A2

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).