K83E (p.Lys83Glu) variant of ADD1 (Alpha-adducin)
K83E (p.Lys83Glu) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
K83E (p.Lys83Glu) variant details
- p.Lys83Glu
- rs1180418096
- gnomAD 4-2881949-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.36
- ESM-1b 1.00
- AlphaMissense 0.47
- MetaLR 0.15
- MetaSVM -0.99
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available