V47A (p.Val47Ala) variant of KCNE1 (P15382)
V47A (p.Val47Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes experimental measurements, published literature, and structural context.
V47A (p.Val47Ala) variant details
- p.Val47Ala
- rs2516764256
- ClinGen CA410198403
- ClinVar RCV002389479
- ClinVar RCV004779326
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- ESM-1b 0.00
- AlphaMissense 0.70
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in JLNS2)
- UniProt: Uncertain significance (in JLNS2)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.41
- Cited in: Long QT Syndrome Overview. (PMID 20301308)