V97I (p.Val97Ile) variant of KCNQ3 (O43525)
V97I (p.Val97Ile) in KCNQ3 (O43525) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Benign neonatal seizures. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
V97I (p.Val97Ile) variant details
- p.Val97Ile
- rs1377968627
- ClinGen CA372292524
- ClinVar RCV003748617
- ClinVar RCV004775453
- Uncertain significance
- not provided; Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.40
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.06
- ClinVar: Uncertain significance (not provided; Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available