R20L (p.Arg20Leu) variant of KCNH2 (hERG)
R20L (p.Arg20Leu) in KCNH2 (hERG) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in LQT2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R20L (p.Arg20Leu) variant details
- p.Arg20Leu
- NCI-TCGA TCGA novel
- Uncertain significance
- in LQT2
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.83
- CADD 24.50
- PolyPhen-2 0.08
- SIFT 0.02
- EBI: uncertain significance (in LQT2)
- UniProt: Uncertain significance (in LQT2)
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 43.6