L88I (p.Leu88Ile) variant of ADD1 (Alpha-adducin)
L88I (p.Leu88Ile) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
L88I (p.Leu88Ile) variant details
- p.Leu88Ile
- rs780023838
- gnomAD 4-2881964-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.30
- MetaLR 0.14
- MetaSVM -0.98
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available