R41Q (p.Arg41Gln) variant of KCNQ3 (O43525)
R41Q (p.Arg41Gln) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- gnomAD rs867469884
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.29
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available