V9M (p.Val9Met) variant of KCNE1 (P15382)
V9M (p.Val9Met) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V9M (p.Val9Met) variant details
- p.Val9Met
- TOPMed rs1423096973
- gnomAD rs1423096973
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.43
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.52