S8N (p.Ser8Asn) variant of CHD2 (O14647)
S8N (p.Ser8Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- gnomAD 15-92901260-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.33
- MetaLR 0.46
- MetaSVM -0.10
- CADD 22.60
- PolyPhen-2 0.07
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available