R44C (p.Arg44Cys) variant of CHEK1 (O14757)
R44C (p.Arg44Cys) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- cosmic curated COSV54023
- ExAC rs771939046
- gnomAD rs771939046
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.37
- CADD 19.90
- PolyPhen-2 0.93
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available