R3K (p.Arg3Lys) variant of CHD2 (O14647)
R3K (p.Arg3Lys) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R3K (p.Arg3Lys) variant details
- p.Arg3Lys
- gnomAD 15-92901245-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.33
- MetaLR 0.48
- MetaSVM -0.40
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available