N2S (p.Asn2Ser) variant of ADD1 (Alpha-adducin)
N2S (p.Asn2Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- gnomAD 4-2875920-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.19
- ESM-1b 0.10
- AlphaMissense 0.11
- MetaLR 0.06
- MetaSVM -1.08
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available