E5K (p.Glu5Lys) variant of CAV3 (Caveolin-3)
E5K (p.Glu5Lys) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- TOPMed rs1428083740
- gnomAD rs1428083740
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.70
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.76
- MetaSVM 0.63
- CADD 24.90
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available