L3P (p.Leu3Pro) variant of KCNE1 (P15382)
L3P (p.Leu3Pro) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype; not specified; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L3P (p.Leu3Pro) variant details
- p.Leu3Pro
- rs567021150
- ClinGen CA16609059
- ClinVar RCV000434020
- ClinVar RCV001497881
- Likely benign
- Cardiovascular phenotype; not specified; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.44
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 7.65
- PolyPhen-2 0.01
- SIFT 0.11
- ClinVar: Likely benign (Cardiovascular phenotype; not specified; Long QT syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.006)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.24
- 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)