Protein level identifier (n.a.):
p.Pro223Leu
cDNA level identifier (n.a.):
c.668C>T
Gene level identifier:
g.51990C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
22:38536118 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
31
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).