Protein level identifier (n.a.):
p.Leu173Pro
cDNA level identifier (n.a.):
c.518T>C
Gene level identifier:
g.31734T>C
Reference, alternative allele:
A, G
Genomic location
3:33106989 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).