Mutation details:

Protein level identifier (n.a.):

p.Lys545Arg

cDNA level identifier (n.a.):

c.1634A>G

Gene level identifier:

g.71234A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

22:38516874 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

28

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 compound heterozygous (1 in total).