I36R (p.Ile36Arg) variant of CAV3 (Caveolin-3)
I36R (p.Ile36Arg) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
I36R (p.Ile36Arg) variant details
- p.Ile36Arg
- gnomAD 3-8733983-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.81
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.74
- MetaSVM 0.55
- CADD 27.70
- Population evidence available
- Structural context available
- Literature evidence available