D43E (p.Asp43Glu) variant of CAV3 (Caveolin-3)
D43E (p.Asp43Glu) in CAV3 (Caveolin-3) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D43E (p.Asp43Glu) variant details
- p.Asp43Glu
- 1000Genomes rs374584030
- ESP rs374584030
- ExAC rs374584030
- TOPMed rs374584030
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.69
- ESM-1b 0.27
- AlphaMissense 0.82
- CADD 7.35
- PolyPhen-2 0.90
- SIFT 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available