P11R (p.Pro11Arg) variant of KCNE1 (P15382)
P11R (p.Pro11Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P11R (p.Pro11Arg) variant details
- p.Pro11Arg
- rs771981567
- ClinGen CA16616263
- ClinVar RCV000461187
- ClinVar RCV003114583
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 23.60
- PolyPhen-2 0.78
- SIFT 0.01
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 5.4e-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)