Mutation details:

Protein level identifier (n.a.):

p.Leu596Phe

cDNA level identifier (n.a.):

c.1786C>T

Gene level identifier:

g.75933C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

22:38512175 (not available on ExAC)

Gene name:

PLA2G6

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

25

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).