A59S (p.Ala59Ser) variant of KCNQ3 (O43525)
A59S (p.Ala59Ser) 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 0.29 / 1. The record also includes population frequency data and structural context.
A59S (p.Ala59Ser) variant details
- p.Ala59Ser
- rs374984158
- ClinGen CA4881008
- ClinVar RCV002011620
- ESP rs374984158
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.288
- REVEL 0.19
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available