Mutation details:

Protein level identifier (NP_003681):

p.Pro222Leu

cDNA level identifier (NM_003690):

c.665C>T

Gene level identifier:

g.15249C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

2:179300991

Gene name:

PRKRA

Consequence:

missense

Pathogenicity scoring:

Definitely pathogenic

CADD score:

22

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

18 homozygous, 2 heterozygous (20 in total).