V46L (p.Val46Leu) variant of CHEK1 (O14757)
V46L (p.Val46Leu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V46L (p.Val46Leu) variant details
- p.Val46Leu
- ExAC rs768467449
- TOPMed rs768467449
- gnomAD rs768467449
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.07
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.30
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available