D202N (p.Asp202Asn) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
D202N (p.Asp202Asn) 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 Cardiovascular phenotype; Cardiac arrhythmia; Jervell and Lange-Nielsen syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
D202N (p.Asp202Asn) variant details
- p.Asp202Asn
- rs199472702
- ClinGen CA007717
- ClinVar RCV000057718
- ClinVar RCV000182091
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; Cardiac arrhythmia; Jervell and Lange-Nielsen syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.02
- CADD 34.00
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; Cardiac arrhythmia; Jervell and Lange-)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the East Asian population (allele frequency 0.0015)
- Structural context available
- Cited in: Wilms Tumor Predisposition. (PMID 20301471)
- Cited in: Beckwith-Wiedemann Syndrome. (PMID 20301568)