H16Q (p.His16Gln) variant of CHD2 (O14647)
H16Q (p.His16Gln) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H16Q (p.His16Gln) variant details
- p.His16Gln
- gnomAD 15-92901285-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.26
- MetaLR 0.42
- MetaSVM -0.48
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.67
- Population evidence available
- Structural context available
- Literature evidence available