G47D (p.Gly47Asp) variant of KCNH2 (hERG)
G47D (p.Gly47Asp) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of KCNH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- gnomAD rs199473490
- Likely pathogenic
- KCNH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.915
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.88
- MetaLR 0.99
- MetaSVM 1.02
- CADD 30.00
- ClinVar: Likely pathogenic (KCNH2-related disorder)
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 74.5