V50L (p.Val50Leu) variant of KCNQ3 (O43525)
V50L (p.Val50Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs1329571058
- ClinGen CA372292801
- ClinVar RCV002011314
- TOPMed rs1329571058
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.39
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available