Mutation details:

Protein level identifier (n.a.):

p.Arg747Trp

cDNA level identifier (n.a.):

c.2239C>T

Gene level identifier:

g.79560C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38508548 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

26755131;

Number of all included cases:

3 homozygous (3 in total).