Q54K (p.Gln54Lys) variant of ADD1 (Alpha-adducin)
Q54K (p.Gln54Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes structural context.
Q54K (p.Gln54Lys) variant details
- p.Gln54Lys
- cosmic curated COSV10458
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.79
- MetaLR 0.26
- MetaSVM -0.52
- CADD 27.70
- Structural context available