Mutation details:

Protein level identifier (n.a.):

p.Leu224Pro

cDNA level identifier (n.a.):

c.671T>C

Gene level identifier:

g.51993T>C

Reference, alternative allele:

A, G

Genomic location hg(0)

22:38536115 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).