N2K (p.Asn2Lys) variant of ADD1 (Alpha-adducin)
N2K (p.Asn2Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- rs1731206923
- gnomAD 4-2875921-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.16
- MetaSVM -0.86
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available