R76H (p.Arg76His) variant of KCNH2 (hERG)
R76H (p.Arg76His) 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 0.67 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R76H (p.Arg76His) variant details
- p.Arg76His
- gnomAD rs868054429
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- REVEL 0.60
- CADD 26.20
- PolyPhen-2 0.50
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)
- Structural context available
- KCNH2 MAVE Trafficking Scores: score 105