L36S (p.Leu36Ser) variant of ADD1 (Alpha-adducin)
L36S (p.Leu36Ser) in ADD1 (Alpha-adducin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
L36S (p.Leu36Ser) variant details
- p.Leu36Ser
- gnomAD 4-2876022-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.13
- ESM-1b 1.00
- AlphaMissense 0.76
- MetaLR 0.11
- MetaSVM -0.96
- CADD 25.20
- Population evidence available
- Structural context available
- Literature evidence available