P10L (p.Pro10Leu) variant of KCNH2 (hERG)
P10L (p.Pro10Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac arrhythmia; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P10L (p.Pro10Leu) variant details
- p.Pro10Leu
- rs1383782501
- ClinGen CA369866736
- ClinVar RCV001217948
- ClinVar RCV006545987
- Uncertain significance
- Cardiac arrhythmia; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.81
- MetaLR 0.94
- MetaSVM 1.10
- CADD 27.60
- ClinVar: Uncertain significance (Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 88.6
- 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)