Protein level identifier (n.a.):
p.Ser557Leu
cDNA level identifier (n.a.):
c.1670C>T
Gene level identifier:
g.71270C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
22:38516838 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
2 compound heterozygous (2 in total).