R29C (p.Arg29Cys) variant of CHEK1 (O14757)
R29C (p.Arg29Cys) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R29C (p.Arg29Cys) variant details
- p.Arg29Cys
- rs544839853
- gnomAD 11-125625863-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0804
- CADD 0.03
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available
- Literature evidence available