R32H (p.Arg32His) variant of KCNE1 (P15382)
R32H (p.Arg32His) in KCNE1 (P15382) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not specified; Long QT syndrome 5. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- rs17857111
- ClinGen CA331978
- cosmic curated COSV61606
- ClinVar RCV000119095
- Uncertain significance
- Cardiovascular phenotype; not specified; Long QT syndrome 5
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.22
- ClinVar: Uncertain significance (Cardiovascular phenotype; not specified; Long QT syndrome 5)
- EBI: Variant of uncertain significance (in LQT5)
- UniProt: Uncertain significance (in LQT5)
- Most common in the Middle Eastern population (allele frequency 0.00086)
- Structural context available
- Functional MAVE scores for KCNE1: score 1.48
- Cited in: Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. (PMID 10973849)
- Cited in: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID 15489334)