R105G (p.Arg105Gly) variant of KCNQ3 (O43525)
R105G (p.Arg105Gly) in KCNQ3 (O43525) 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 0.69 / 1. The record also includes population frequency data and structural context.
R105G (p.Arg105Gly) variant details
- p.Arg105Gly
- ExAC rs766185814
- gnomAD rs766185814
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.78
- CADD 27.60
- PolyPhen-2 0.68
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available