R41L (p.Arg41Leu) variant of KCNQ3 (O43525)
R41L (p.Arg41Leu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R41L (p.Arg41Leu) variant details
- p.Arg41Leu
- gnomAD rs867469884
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.33
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the African/African-American population (allele frequency 3.5e-05)
- Structural context available