E5D (p.Glu5Asp) variant of CAV3 (Caveolin-3)
E5D (p.Glu5Asp) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- rs1559639840
- ClinGen CA351661170
- ClinVar RCV000757057
- Ensembl rs1559639840
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.65
- MetaSVM -0.04
- PolyPhen-2 0.01
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available