G86R (p.Gly86Arg) variant of KCNQ3 (O43525)
G86R (p.Gly86Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G86R (p.Gly86Arg) variant details
- p.Gly86Arg
- gnomAD rs1239334203
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- REVEL 0.51
- CADD 24.60
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available