D55N (p.Asp55Asn) variant of CAV3 (Caveolin-3)
D55N (p.Asp55Asn) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- rs774007619
- ClinGen CA351663205
- ClinVar RCV003121383
- ExAC rs774007619
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.85
- ESM-1b 1.00
- AlphaMissense 0.66
- CADD 25.00
- PolyPhen-2 0.84
- SIFT 0.03
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)