H16Y (p.His16Tyr) variant of CHD2 (O14647)
H16Y (p.His16Tyr) 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, published literature, and structural context.
H16Y (p.His16Tyr) variant details
- p.His16Tyr
- gnomAD 15-92901283-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.34
- MetaLR 0.51
- MetaSVM -0.06
- CADD 24.00
- PolyPhen-2 0.19
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available