R29Q (p.Arg29Gln) variant of CHEK1 (O14757)
R29Q (p.Arg29Gln) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R29Q (p.Arg29Gln) variant details
- p.Arg29Gln
- rs1940559253
- gnomAD 11-125625765-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.37
- Population evidence available
- Structural context available
- Literature evidence available