Protein level identifier (NP_000104):
p.Ala163Val
cDNA level identifier (NM_000113):
c.488C>T
Gene level identifier:
g.5258C>T
Reference, alternative allele:
G, A
Genomic location hg(19)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
23
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).