A38V (p.Ala38Val) variant of ANK2 (Ankyrin-2)
A38V (p.Ala38Val) in ANK2 (Ankyrin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes experimental measurements, published literature, and structural context.
A38V (p.Ala38Val) variant details
- p.Ala38Val
- rs2098116035
- ClinGen CA357992903
- ClinVar RCV002223351
- ClinVar RCV002454589
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- AlphaMissense 0.94
- MetaLR 0.68
- MetaSVM 0.43
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.474
- 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)