A46S (p.Ala46Ser) variant of CAV3 (Caveolin-3)
A46S (p.Ala46Ser) 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 0.63 / 1. The record also includes structural context.
A46S (p.Ala46Ser) variant details
- p.Ala46Ser
- rs116840789
- ClinGen CA215243
- ClinVar RCV000024440
- Ensembl rs116840789
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 0.00
- AlphaMissense 0.57
- MetaLR 0.93
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic (in RMD2)
- UniProt: Pathogenic (in RMD2)
- Structural context available