R27Q (p.Arg27Gln) variant of ADD1 (Alpha-adducin)
R27Q (p.Arg27Gln) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- rs748260808
- gnomAD 4-2875995-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.60
- MetaLR 0.20
- MetaSVM -0.77
- CADD 27.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available