L9F (p.Leu9Phe) variant of CAV3 (Caveolin-3)
L9F (p.Leu9Phe) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L9F (p.Leu9Phe) variant details
- p.Leu9Phe
- gnomAD 3-8733901-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.68
- MetaSVM 0.04
- CADD 19.50
- Population evidence available
- Structural context available
- Literature evidence available