M52V (p.Met52Val) variant of ADD1 (Alpha-adducin)
M52V (p.Met52Val) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
M52V (p.Met52Val) variant details
- p.Met52Val
- rs374585294
- gnomAD 4-2876069-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.93
- MetaLR 0.20
- MetaSVM -0.66
- CADD 26.20
- Population evidence available
- Structural context available
- Literature evidence available