V12L (p.Val12Leu) variant of CHEK1 (O14757)
V12L (p.Val12Leu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V12L (p.Val12Leu) variant details
- p.Val12Leu
- ExAC rs200520758
- TOPMed rs200520758
- gnomAD rs200520758
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.15
- CADD 24.60
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00057)
- Structural context available