G44R (p.Gly44Arg) variant of KCNQ3 (O43525)
G44R (p.Gly44Arg) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G44R (p.Gly44Arg) variant details
- p.Gly44Arg
- gnomAD rs1198906968
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.49
- CADD 24.20
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available