D55Y (p.Asp55Tyr) variant of CAV3 (Caveolin-3)
D55Y (p.Asp55Tyr) in CAV3 (Caveolin-3) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
D55Y (p.Asp55Tyr) variant details
- p.Asp55Tyr
- cosmic curated COSV57480
- ExAC rs774007619
- TOPMed rs774007619
- gnomAD rs774007619
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.9
- REVEL 0.96
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available