R190Q (p.Arg190Gln) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
R190Q (p.Arg190Gln) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital long QT syndrome; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R190Q (p.Arg190Gln) variant details
- p.Arg190Gln
- rs120074178
- ClinGen CA007542
- ClinVar RCV000003264
- ClinVar RCV000046088
- Pathogenic/Likely pathogenic
- Congenital long QT syndrome; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.94
- MetaLR 0.95
- MetaSVM 1.09
- CADD 31.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital long QT syndrome; not provided; Cardiovascular phenot)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk. (PMID 10728423)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)