Protein level identifier (NP_055542):
p.Leu2431Ser
cDNA level identifier (NM_014727):
c.7292T>C
Gene level identifier:
g.18803T>C
Reference, alternative allele:
T, C
Genomic location hg(0)
19:36227723 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
29
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).