F54L (p.Phe54Leu) variant of CAV3 (Caveolin-3)
F54L (p.Phe54Leu) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
F54L (p.Phe54Leu) variant details
- p.Phe54Leu
- rs1708130193
- ClinGen CA351663204
- ClinVar RCV002401267
- ClinVar RCV006693156
- Uncertain significance
- Cardiovascular phenotype; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 11.50
- PolyPhen-2 0.02
- SIFT 0.44
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available