L88Q (p.Leu88Gln) variant of KCNQ3 (O43525)
L88Q (p.Leu88Gln) 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 0.68 / 1. The record also includes population frequency data and structural context.
L88Q (p.Leu88Gln) variant details
- p.Leu88Gln
- rs1051073307
- ClinGen CA186258324
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10119
- Uncertain significance
- Benign neonatal seizures
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.71
- CADD 29.50
- PolyPhen-2 0.82
- SIFT 0.02
- ClinVar: Uncertain significance (Benign neonatal seizures)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available