G60R (p.Gly60Arg) variant of KCNQ3 (O43525)
G60R (p.Gly60Arg) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, 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 0.64 / 1. The record also includes population frequency data and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs1283325203
- ClinGen CA372292740
- ClinVar RCV001211618
- TOPMed rs1283325203
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.56
- CADD 27.10
- PolyPhen-2 0.74
- SIFT 0.01
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available