Mutation details:

Protein level identifier (n.a.):

p.Ala227Val

cDNA level identifier (n.a.):

c.680C>T

Gene level identifier:

g.52002C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38536106 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

26

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

4 homozygous (4 in total).