K55N (p.Lys55Asn) variant of ADD1 (Alpha-adducin)
K55N (p.Lys55Asn) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes structural context.
K55N (p.Lys55Asn) variant details
- p.Lys55Asn
- cosmic curated COSV11318
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.09
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.14
- MetaSVM -0.98
- CADD 20.50
- Structural context available