A46E (p.Ala46Glu) variant of CAV3 (Caveolin-3)
A46E (p.Ala46Glu) 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 0.94 / 1. The record also includes structural context.
A46E (p.Ala46Glu) variant details
- p.Ala46Glu
- rs116840773
- ClinGen CA215204
- ClinVar RCV000024424
- Ensembl rs116840773
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.941
- ESM-1b 0.95
- AlphaMissense 0.98
- MetaLR 0.93
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Structural context available