A57V (p.Ala57Val) variant of NKX2-5 (Homeobox protein Nkx-2.5)
A57V (p.Ala57Val) in NKX2-5 (Homeobox protein Nkx-2.5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- gnomAD rs1346280352
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available