G10R (p.Gly10Arg) variant of KCNQ3 (O43525)
G10R (p.Gly10Arg) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
G10R (p.Gly10Arg) variant details
- p.Gly10Arg
- gnomAD rs1822534482
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.52
- CADD 26.20
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available