R29L (p.Arg29Leu) variant of CHEK1 (O14757)
R29L (p.Arg29Leu) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
R29L (p.Arg29Leu) variant details
- p.Arg29Leu
- gnomAD 11-125625864-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available