Q76R (p.Gln76Arg) variant of ADD1 (Alpha-adducin)
Q76R (p.Gln76Arg) 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.
Q76R (p.Gln76Arg) variant details
- p.Gln76Arg
- gnomAD 4-2881929-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.16
- MetaSVM -0.91
- CADD 24.70
- Population evidence available
- Structural context available
- Literature evidence available