R27P (p.Arg27Pro) variant of KCNH2 (hERG)
R27P (p.Arg27Pro) 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 0.91 / 1. The record also includes experimental measurements and structural context.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- rs199472828
- ClinGen CA008838
- ClinVar RCV000058259
- ExAC rs199472828
- not provided
- Congenital long QT syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.908
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.10
- CADD 32.00
- PolyPhen-2 0.97
- ClinVar: not provided (Congenital long QT syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 93.4