Q76K (p.Gln76Lys) variant of ADD1 (Alpha-adducin)
Q76K (p.Gln76Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q76K (p.Gln76Lys) variant details
- p.Gln76Lys
- rs371281109
- gnomAD 4-2881928-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.29
- ESM-1b 1.00
- AlphaMissense 0.18
- MetaLR 0.16
- MetaSVM -0.95
- CADD 24.80
- Population evidence available
- Structural context available
- Literature evidence available