R44G (p.Arg44Gly) variant of CHEK1 (O14757)
R44G (p.Arg44Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R44G (p.Arg44Gly) variant details
- p.Arg44Gly
- gnomAD 11-125625926-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.759
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available