Protein level identifier (NP_000152):
p.Ser81Pro
cDNA level identifier (NM_000161):
c.241T>C
Gene level identifier:
g.430T>C
Reference, alternative allele:
A, G
Genomic location hg(0)
14:55369141 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
13
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).