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 0.637
- REVEL 0.62
- CADD 22.80
- PolyPhen-2 0.07
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiac arrhythmia; Long QT syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- KCNH2 MAVE Trafficking Scores: 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)