R56P (p.Arg56Pro) variant of KCNH2 (hERG)
R56P (p.Arg56Pro) in KCNH2 (hERG) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R56P (p.Arg56Pro) variant details
- p.Arg56Pro
- rs199472845
- ClinGen CA369865760
- ClinVar RCV002406011
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.87
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.05
- CADD 32.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance (in LQT2)
- UniProt: Uncertain significance (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 31.6