W58R (p.Trp58Arg) variant of CAV3 (Caveolin-3)
W58R (p.Trp58Arg) in CAV3 (Caveolin-3) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.98 / 1. The record also includes structural context.
W58R (p.Trp58Arg) variant details
- p.Trp58Arg
- rs199476330
- ClinGen CA215199
- ClinVar RCV000024421
- gnomAD rs199476330
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.977
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available