R20G (p.Arg20Gly) variant of KCNH2 (hERG)
R20G (p.Arg20Gly) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Long QT syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes experimental measurements, published literature, and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- rs199473486
- ClinGen CA008617
- ClinVar RCV000058242
- ClinVar RCV001571031
- Uncertain significance
- Long QT syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- AlphaMissense 0.97
- MetaLR 0.96
- MetaSVM 1.13
- PolyPhen-2 0.25
- SIFT 0.00
- MutPred 0.76
- ClinVar: Uncertain significance (Long QT syndrome; not provided)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 43.6
- 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)