V35L (p.Val35Leu) variant of CHEK1 (O14757)
V35L (p.Val35Leu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
V35L (p.Val35Leu) variant details
- p.Val35Leu
- TOPMed rs1380056031
- gnomAD rs1380056031
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.58
- CADD 20.80
- PolyPhen-2 0.77
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available