M51V (p.Met51Val) variant of ADD1 (Alpha-adducin)
M51V (p.Met51Val) 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.
M51V (p.Met51Val) variant details
- p.Met51Val
- gnomAD 4-2876066-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.30
- ESM-1b 1.00
- AlphaMissense 0.33
- MetaLR 0.14
- MetaSVM -1.01
- CADD 23.70
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available