A54V (p.Ala54Val) variant of PKLR (Pyruvate kinase PKLR)
A54V (p.Ala54Val) in PKLR (Pyruvate kinase PKLR) is a missense change. The record also includes structural context.
A54V (p.Ala54Val) variant details
- p.Ala54Val
- Ensembl rs1374868491
- Missense
- Structural context available