R29K (p.Arg29Lys) variant of CHEK1 (O14757)
R29K (p.Arg29Lys) 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, published literature, and structural context.
R29K (p.Arg29Lys) variant details
- p.Arg29Lys
- gnomAD 11-125627627-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.08
- CADD 20.60
- PolyPhen-2 0.02
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available