R35Q (p.Arg35Gln) variant of KCNH2 (hERG)
R35Q (p.Arg35Gln) in KCNH2 (hERG) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- Ensembl rs1801941054
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.47
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 111