H16N (p.His16Asn) variant of CHD2 (O14647)
H16N (p.His16Asn) 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.
H16N (p.His16Asn) variant details
- p.His16Asn
- gnomAD 15-92901283-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.34
- MetaLR 0.50
- MetaSVM -0.26
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available