G65R (p.Gly65Arg) variant of KCNQ2 (O43526)
G65R (p.Gly65Arg) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G65R (p.Gly65Arg) variant details
- p.Gly65Arg
- ExAC rs758276132
- gnomAD rs758276132
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.49
- CADD 22.60
- PolyPhen-2 0.25
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available