A31V (p.Ala31Val) variant of KCNE1 (P15382)
A31V (p.Ala31Val) in KCNE1 (P15382) 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 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs532752739
- ClinGen CA320425496
- ClinVar RCV003533805
- ClinVar RCV004101679
- Uncertain significance
- Cardiovascular phenotype; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.60
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.37
- 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)