Protein level identifier (n.a.):
p.Met80Val
cDNA level identifier (n.a.):
c.238A<G
Gene level identifier:
g.4313A>G
Reference, alternative allele:
A, G
Genomic location hg(0)
11:112101400 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).