C48Y (p.Cys48Tyr) variant of CHEK1 (O14757)
C48Y (p.Cys48Tyr) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
C48Y (p.Cys48Tyr) variant details
- p.Cys48Tyr
- gnomAD 11-125625810-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 7.03
- Population evidence available
- Structural context available
- Literature evidence available