N50S (p.Asn50Ser) variant of ADD1 (Alpha-adducin)
N50S (p.Asn50Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N50S (p.Asn50Ser) variant details
- p.Asn50Ser
- rs781360063
- gnomAD 4-2876064-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.14
- MetaSVM -1.01
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available