Q9R (p.Gln9Arg) variant of CHD2 (O14647)
Q9R (p.Gln9Arg) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- ExAC rs779552225
- gnomAD rs779552225
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- MetaLR 0.45
- MetaSVM -0.38
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00025)
- Structural context available