A45V (p.Ala45Val) variant of CHEK1 (O14757)
A45V (p.Ala45Val) in CHEK1 (O14757) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The record also includes structural context.
A45V (p.Ala45Val) variant details
- p.Ala45Val
- ExAC rs760734978
- gnomAD rs760734978
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available