Protein level identifier (n.a.):

p.Met1Ile

cDNA level identifier (n.a.):

c.3G>T

Gene level identifier:

g.22677G>T

Reference, alternative allele:

C, A

Genomic location hg(0)

22:38565431 (not available on ExAC)

Gene name:

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous, 1 compound heterozygous (2 in total).