D41G (p.Asp41Gly) variant of CHEK1 (O14757)
D41G (p.Asp41Gly) in CHEK1 (O14757) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D41G (p.Asp41Gly) variant details
- p.Asp41Gly
- TOPMed rs1940676649
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- REVEL 0.66
- CADD 21.50
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available