Mutation details:

Protein level identifier (n.a.):

p.Lys678Glu

cDNA level identifier (n.a.):

c.2032A>G

Gene level identifier:

g.76572A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

22:38511536 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).