R35P (p.Arg35Pro) variant of KCNH2 (hERG)
R35P (p.Arg35Pro) 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 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- rs1801941054
- ClinGen CA369865955
- ClinVar RCV002401158
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.97
- MetaSVM 1.12
- CADD 31.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Scores from cell surface expression deep mutational scan of KCNH2 in HEK293T cel: score 111