V47D (p.Val47Asp) variant of KCNE1 (P15382)
V47D (p.Val47Asp) 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 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V47D (p.Val47Asp) variant details
- p.Val47Asp
- rs2516764256
- ClinGen CA410198404
- ClinVar RCV004520792
- ClinVar RCV004780722
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.96
- CADD 27.50
- PolyPhen-2 0.67
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in JLNS2)
- UniProt: Uncertain significance (in JLNS2)
- Population evidence available
- Structural context available
- Functional MAVE scores for KCNE1: score 1.41
- Cited in: Long QT Syndrome Overview. (PMID 20301308)