Q83P (p.Gln83Pro) variant of KCNQ3 (O43525)
Q83P (p.Gln83Pro) 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 0.52 / 1. The record also includes population frequency data and structural context.
Q83P (p.Gln83Pro) variant details
- p.Gln83Pro
- rs2537398238
- ClinGen CA372292604
- ClinVar RCV003586443
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.49
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available