R27G (p.Arg27Gly) variant of ADD1 (Alpha-adducin)
R27G (p.Arg27Gly) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- rs1404833391
- gnomAD 4-2875994-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.89
- MetaLR 0.16
- MetaSVM -0.92
- CADD 22.90
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available