S21N (p.Ser21Asn) variant of CHD2 (O14647)
S21N (p.Ser21Asn) in CHD2 (O14647) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- gnomAD 15-92901299-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.34
- MetaLR 0.70
- MetaSVM 0.31
- CADD 34.00
- PolyPhen-2 0.93
- SIFT 0.05
- Population evidence available
- Structural context available
- Literature evidence available