N101S (p.Asn101Ser) variant of KCNQ3 (O43525)
N101S (p.Asn101Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
N101S (p.Asn101Ser) variant details
- p.Asn101Ser
- rs1822516861
- ClinGen CA372292493
- ClinVar RCV001988258
- TOPMed rs1822516861
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.49
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.15
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available