P35S (p.Pro35Ser) variant of KCNE1 (P15382)
P35S (p.Pro35Ser) 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 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs771113232
- ClinGen CA320425483
- ClinVar RCV003648793
- ClinVar RCV004780629
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.68
- PolyPhen-2 0.00
- SIFT 0.35
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Trafficking scores for KCNE1 in the absence of KCNQ1: score 1.13
- 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)