A102S (p.Ala102Ser) variant of KCNQ3 (O43525)
A102S (p.Ala102Ser) 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 0.54 / 1. The record also includes population frequency data and structural context.
A102S (p.Ala102Ser) variant details
- p.Ala102Ser
- rs867066299
- ClinGen CA186258323
- ClinVar RCV003849497
- TOPMed rs867066299
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.42
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.03
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available