G8R (p.Gly8Arg) variant of KCNQ2 (O43526)
G8R (p.Gly8Arg) in KCNQ2 (O43526) 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 0.61 / 1. The record also includes population frequency data and structural context.
G8R (p.Gly8Arg) variant details
- p.Gly8Arg
- ExAC rs769045070
- TOPMed rs769045070
- gnomAD rs769045070
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.53
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available