P7Q (p.Pro7Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
P7Q (p.Pro7Gln) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
P7Q (p.Pro7Gln) variant details
- p.Pro7Gln
- TOPMed rs1209850120
- gnomAD rs1209850120
- Uncertain significance
- Long QT syndrome; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.43
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.96
- MetaSVM 0.91
- CADD 23.60
- ClinVar: Uncertain significance (Long QT syndrome; Cardiovascular phenotype)
- EBI: uncertain significance (in LQT1)
- UniProt: Uncertain significance (in LQT1)
- Population evidence available
- Structural context available