P11T (p.Pro11Thr) variant of KCNE1 (P15382)
P11T (p.Pro11Thr) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11T (p.Pro11Thr) variant details
- p.Pro11Thr
- rs775325455
- ClinGen CA410198615
- ClinVar RCV001315355
- ClinVar RCV004779060
- Uncertain significance
- Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 19.00
- PolyPhen-2 0.23
- SIFT 0.03
- ClinVar: Uncertain significance (Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.6e-05)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.07
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)