D16N (p.Asp16Asn) variant of CAV3 (Caveolin-3)
D16N (p.Asp16Asn) in CAV3 (Caveolin-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes published literature and structural context.
D16N (p.Asp16Asn) variant details
- p.Asp16Asn
- rs1707652520
- ClinGen CA351661324
- cosmic curated COSV10464
- ClinVar RCV001936428
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.74
- MetaSVM 0.39
- PolyPhen-2 0.09
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)