Mutation details:

Protein level identifier (n.a.):

p.Phe542Leu

cDNA level identifier (n.a.):

c.1626T>A

Gene level identifier:

g.71226T>A

Reference, alternative allele:

A, T

Genomic location hg(0)

22:38516882 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).