Mutation details:

Protein level identifier (n.a.):

p.Ala516Val

cDNA level identifier (n.a.):

c.1547C>T

Gene level identifier:

g.68962C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38519146 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).