P48L (p.Pro48Leu) variant of CAV3 (Caveolin-3)
P48L (p.Pro48Leu) 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 0.85 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- TOPMed rs1060502317
- gnomAD rs1060502317
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available