V50E (p.Val50Glu) variant of KCNQ3 (O43525)
V50E (p.Val50Glu) 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 0.35 / 1. The record also includes population frequency data and structural context.
V50E (p.Val50Glu) variant details
- p.Val50Glu
- Ensembl rs1316697709
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.47
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.59
- ClinVar: Uncertain significance (Benign neonatal seizures)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available