R3C (p.Arg3Cys) variant of CHD2 (O14647)
R3C (p.Arg3Cys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R3C (p.Arg3Cys) variant details
- p.Arg3Cys
- rs968209923
- gnomAD 15-92904968-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- CADD 9.47
- SIFT 0.15
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available