A36P (p.Ala36Pro) variant of KCNQ3 (O43525)
A36P (p.Ala36Pro) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data and structural context.
A36P (p.Ala36Pro) variant details
- p.Ala36Pro
- ExAC rs767638119
- TOPMed rs767638119
- gnomAD rs767638119
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.44
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Uncertain significance (Benign neonatal seizures)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available