G16R (p.Gly16Arg) variant of KCNQ2 (O43526)
G16R (p.Gly16Arg) 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 0.52 / 1. The record also includes population frequency data and structural context.
G16R (p.Gly16Arg) variant details
- p.Gly16Arg
- ExAC rs776118228
- gnomAD rs776118228
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.40
- CADD 22.90
- PolyPhen-2 0.27
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available