S225L (p.Ser225Leu) variant of KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1)
S225L (p.Ser225Leu) in KCNQ1 (Potassium voltage-gated channel subfamily KQT member 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Long QT syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
S225L (p.Ser225Leu) variant details
- p.Ser225Leu
- rs199473456
- ClinGen CA007870
- cosmic curated COSV10454
- ClinVar RCV000046103
- Likely pathogenic
- Long QT syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.09
- CADD 24.90
- ClinVar: Likely pathogenic (Long QT syndrome 1)
- EBI: Pathogenic (in LQT1)
- UniProt: Pathogenic (in LQT1)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic… (PMID 15840476)