R9T (p.Arg9Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R9T (p.Arg9Thr) 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 Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R9T (p.Arg9Thr) variant details
- p.Arg9Thr
- rs1469698360
- ClinGen CA379115747
- ClinVar RCV001258175
- TOPMed rs1469698360
- Uncertain significance
- Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.31
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.90
- MetaSVM 0.70
- CADD 18.20
- ClinVar: Uncertain significance (Jervell and Lange-Nielsen syndrome 1; Long QT syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TUSCAN population (allele frequency 1)
- Structural context available
- Cited in: Jervell and Lange-Nielsen Syndrome. (PMID 20301579)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)