E47D (p.Glu47Asp) variant of CAV3 (Caveolin-3)
E47D (p.Glu47Asp) 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 0.78 / 1. The record also includes structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- rs199476328
- ClinGen CA215233
- ClinVar RCV000024436
- Ensembl rs199476328
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.784
- ESM-1b 0.32
- AlphaMissense 1.00
- MetaLR 0.94
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Structural context available