A302T (p.Ala302Thr) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
A302T (p.Ala302Thr) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. The available record places it in the context of Cardiovascular phenotype; Cardiac arrhythmia; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A302T (p.Ala302Thr) variant details
- p.Ala302Thr
- rs199472739
- ClinGen CA008575
- ClinVar RCV000057790
- UniProt VAR 074976
- not provided
- Cardiovascular phenotype; Cardiac arrhythmia; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.96
- MetaSVM 1.07
- CADD 27.70
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Variant of uncertain significance (in LQT1)
- UniProt: Uncertain significance (in LQT1)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical… (PMID 16414944)
- Cited in: Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. (PMID 10024302)