R4Q (p.Arg4Gln) variant of KCNH2 (hERG)
R4Q (p.Arg4Gln) in KCNH2 (hERG) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R4Q (p.Arg4Gln) variant details
- p.Arg4Gln
- NCI-TCGA Cosmic COSV5121
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.67
- CADD 25.80
- PolyPhen-2 0.94
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 110