M41V (p.Met41Val) variant of ADD1 (Alpha-adducin)
M41V (p.Met41Val) 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.
M41V (p.Met41Val) variant details
- p.Met41Val
- gnomAD 4-2876036-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.17
- MetaSVM -0.83
- CADD 25.50
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available
- Literature evidence available