F54C (p.Phe54Cys) variant of CAV3 (Caveolin-3)
F54C (p.Phe54Cys) in CAV3 (Caveolin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
F54C (p.Phe54Cys) variant details
- p.Phe54Cys
- TOPMed rs1708130115
- gnomAD rs1708130115
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.60
- CADD 28.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available