D8N (p.Asp8Asn) variant of CAV3 (Caveolin-3)
D8N (p.Asp8Asn) 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 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes published literature and structural context.
D8N (p.Asp8Asn) variant details
- p.Asp8Asn
- rs2124977121
- ClinGen CA351661200
- cosmic curated COSV59561
- ClinVar RCV001728080
- Uncertain significance
- Long QT syndrome 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM 0.32
- PolyPhen-2 0.08
- SIFT 0.21
- ClinVar: Uncertain significance (Long QT syndrome 9)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)