F54V (p.Phe54Val) variant of CAV3 (Caveolin-3)
F54V (p.Phe54Val) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
F54V (p.Phe54Val) variant details
- p.Phe54Val
- rs730880419
- ClinGen CA295935
- ClinVar RCV002785678
- ExAC rs730880419
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.43
- CADD 23.50
- PolyPhen-2 0.10
- SIFT 0.04
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)