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 KCNH2-related disorder; Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 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
- KCNH2-related disorder; Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- ESM-1b 1.00
- AlphaMissense 0.43
- MetaLR 0.98
- MetaSVM 1.08
- CADD 31.00
- PolyPhen-2 0.82
- ClinVar: Pathogenic/Likely pathogenic (KCNH2-related disorder; Cardiovascular phenotype; not provided)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: 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)