N50T (p.Asn50Thr) variant of ADD1 (Alpha-adducin)
N50T (p.Asn50Thr) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
N50T (p.Asn50Thr) variant details
- p.Asn50Thr
- gnomAD 4-2876064-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.20
- MetaSVM -0.70
- CADD 27.40
- Population evidence available
- Structural context available
- Literature evidence available