I45V (p.Ile45Val) variant of CAV3 (Caveolin-3)
I45V (p.Ile45Val) 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 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
I45V (p.Ile45Val) variant details
- p.Ile45Val
- rs1708128320
- ClinGen CA351663150
- ClinVar RCV001049928
- Ensembl rs1708128320
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.78
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 24.00
- PolyPhen-2 0.84
- SIFT 0.05
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)