N31K (p.Asn31Lys) variant of ADD1 (Alpha-adducin)
N31K (p.Asn31Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N31K (p.Asn31Lys) variant details
- p.Asn31Lys
- gnomAD 4-2876008-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.07
- ESM-1b 1.00
- AlphaMissense 0.48
- MetaLR 0.07
- MetaSVM -1.09
- CADD 20.10
- Population evidence available
- Structural context available
- Literature evidence available