E47A (p.Glu47Ala) variant of CAV3 (Caveolin-3)
E47A (p.Glu47Ala) 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 0.97 / 1. The record also includes structural context.
E47A (p.Glu47Ala) variant details
- p.Glu47Ala
- rs199476327
- ClinGen CA215230
- ClinVar RCV000024435
- Ensembl rs199476327
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.975
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available