N2I (p.Asn2Ile) variant of ADD1 (Alpha-adducin)
N2I (p.Asn2Ile) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
N2I (p.Asn2Ile) variant details
- p.Asn2Ile
- gnomAD 4-2875920-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.44
- MetaLR 0.16
- MetaSVM -0.86
- CADD 26.60
- Population evidence available
- Structural context available
- Literature evidence available