V50M (p.Val50Met) variant of KCNQ3 (O43525)
V50M (p.Val50Met) 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 0.40 / 1. The record also includes population frequency data and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs1329571058
- ClinGen CA372292802
- ClinVar RCV003839665
- TOPMed rs1329571058
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.34
- CADD 21.40
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.6e-05)
- Structural context available