L388P (p.Leu388Pro) variant of KCNQ2 (O43526)
L388P (p.Leu388Pro) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Autosomal dominant epilepsy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L388P (p.Leu388Pro) variant details
- p.Leu388Pro
- rs2516310445
- ClinGen CA409650037
- ClinVar RCV003156204
- Likely pathogenic
- Autosomal dominant epilepsy
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.82
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Autosomal dominant epilepsy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available