Mutation details:

Protein level identifier (n.a.):

p.Glu547Gly

cDNA level identifier (n.a.):

c.1640A>G

Gene level identifier:

g.71240A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

22:38516868 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

5 homozygous (5 in total).