G53S (p.Gly53Ser) variant of KCNH2 (hERG)
G53S (p.Gly53Ser) in KCNH2 (hERG) is a missense change. The available record places it in the context of Congenital long QT syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes experimental measurements and structural context.
G53S (p.Gly53Ser) variant details
- p.Gly53Ser
- rs199472842
- ClinGen CA004823
- ClinVar RCV000057923
- Ensembl rs199472842
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.869
- ESM-1b 1.00
- AlphaMissense 0.65
- MetaLR 0.99
- MetaSVM 0.92
- CADD 28.80
- PolyPhen-2 0.94
- ClinVar: not provided (Congenital long QT syndrome)
- 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