P92R (p.Pro92Arg) variant of KCNQ3 (O43525)
P92R (p.Pro92Arg) 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 0.74 / 1. The record also includes population frequency data and structural context.
P92R (p.Pro92Arg) variant details
- p.Pro92Arg
- rs1328966824
- ClinGen CA372292550
- ClinVar RCV003016678
- TOPMed rs1328966824
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.71
- CADD 29.50
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available