R35Q (p.Arg35Gln) variant of KCNH2 (hERG)
R35Q (p.Arg35Gln) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- Ensembl rs1801941054
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.47
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.83
- MetaSVM 0.57
- CADD 26.30
- 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