Q41R (p.Gln41Arg) variant of CHD2 (O14647)
Q41R (p.Gln41Arg) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q41R (p.Gln41Arg) variant details
- p.Gln41Arg
- gnomAD 15-92924380-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.08
- MetaLR 0.44
- MetaSVM -0.33
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available