G47D (p.Gly47Asp) variant of KCNH2 (hERG)
G47D (p.Gly47Asp) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LQT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- gnomAD rs199473490
- Pathogenic
- in LQT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.893
- REVEL 0.95
- AlphaMissense 0.79
- MetaLR 0.98
- MetaSVM 1.03
- CADD 25.50
- PolyPhen-2 1.00
- EBI: Pathogenic (in LQT2)
- UniProt: Pathogenic (in LQT2)
- Most common in the HGDP:COLOMBIAN population (allele frequency 0.5)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 74.5