D55E (p.Asp55Glu) variant of CAV3 (Caveolin-3)
D55E (p.Asp55Glu) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Long QT syndrome; Caveolinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D55E (p.Asp55Glu) variant details
- p.Asp55Glu
- rs759446749
- ClinGen CA351663210
- ClinVar RCV001340756
- ClinVar RCV001796985
- Uncertain significance
- not provided; Long QT syndrome; Caveolinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.71
- ESM-1b 0.56
- AlphaMissense 0.83
- CADD 13.50
- PolyPhen-2 0.80
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Long QT syndrome; Caveolinopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-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)