R3G (p.Arg3Gly) variant of CHD2 (O14647)
R3G (p.Arg3Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- Ensembl rs2052524430
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.38
- MetaLR 0.57
- MetaSVM 0.22
- CADD 25.30
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available