A335V (p.Ala335Val) variant of G6PD (P11413)
A335V (p.Ala335Val) in G6PD (P11413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc. The record also includes structural context.
A335V (p.Ala335Val) variant details
- p.Ala335Val
- gnomAD rs1557229854
- Pathogenic
- Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due to G6PD deficienc
- Missense
- ClinVar: Pathogenic (Inborn genetic diseases; Anemia, nonspherocytic hemolytic, due t)
- EBI: Pathogenic (in CNSHA1)
- UniProt: Pathogenic (in CNSHA1)
- Structural context available