E4D (p.Glu4Asp) variant of CAV3 (Caveolin-3)
E4D (p.Glu4Asp) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- Ensembl rs1707650758
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.39
- MetaSVM -0.66
- SIFT 0.65
- Structural context available