A19G (p.Ala19Gly) variant of CHD2 (O14647)
A19G (p.Ala19Gly) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A19G (p.Ala19Gly) variant details
- p.Ala19Gly
- gnomAD 15-92901293-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.16
- MetaLR 0.53
- MetaSVM -0.38
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available