M41K (p.Met41Lys) variant of ADD1 (Alpha-adducin)
M41K (p.Met41Lys) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
M41K (p.Met41Lys) variant details
- p.Met41Lys
- rs965242105
- gnomAD 4-2876037-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.18
- MetaSVM -0.85
- CADD 27.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available