P72Q (p.Pro72Gln) variant of KCNH2 (hERG)
P72Q (p.Pro72Gln) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiovascular phenotype; not provided; Long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes experimental measurements, published literature, and structural context.
P72Q (p.Pro72Gln) variant details
- p.Pro72Gln
- rs199473421
- ClinGen CA006293
- ClinVar RCV000058088
- ClinVar RCV000463612
- Pathogenic/Likely pathogenic
- Cardiovascular phenotype; not provided; Long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- AlphaMissense 0.54
- MetaLR 0.99
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.86
- ClinVar: Pathogenic/Likely pathogenic (Cardiovascular phenotype; not provided; Long QT syndrome)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- 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)