P72L (p.Pro72Leu) variant of KCNH2 (hERG)
P72L (p.Pro72Leu) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Long QT syndrome; not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P72L (p.Pro72Leu) variant details
- p.Pro72Leu
- rs199473421
- ClinGen CA006305
- ClinVar RCV000058090
- ClinVar RCV000181938
- Pathogenic/Likely pathogenic
- Long QT syndrome; not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- REVEL 0.90
- AlphaMissense 0.54
- MetaLR 0.99
- MetaSVM 1.07
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Long QT syndrome; not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 0
- Cited in: Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long… (PMID 19716085)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)