M41L (p.Met41Leu) variant of ADD1 (Alpha-adducin)
M41L (p.Met41Leu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
M41L (p.Met41Leu) variant details
- p.Met41Leu
- gnomAD 4-2876036-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.55
- MetaLR 0.14
- MetaSVM -0.99
- CADD 24.20
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available