F112L (p.Phe112Leu) variant of KCNQ2 (O43526)
F112L (p.Phe112Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes structural context.
F112L (p.Phe112Leu) variant details
- p.Phe112Leu
- rs2081440418
- ClinGen CA409656469
- ClinVar RCV006464796
- Ensembl rs2081440418
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- AlphaMissense 0.96
- MetaLR 0.67
- MetaSVM 0.10
- PolyPhen-2 0.89
- SIFT 0.79
- EVE 0.17
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available