F305L (p.Phe305Leu) variant of KCNQ2 (O43526)
F305L (p.Phe305Leu) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Early-infantile DEE; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
F305L (p.Phe305Leu) variant details
- p.Phe305Leu
- rs775918190
- ClinGen CA315408
- ClinVar RCV000187884
- ClinVar RCV000678151
- Pathogenic
- Early-infantile DEE; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 1.00
- MetaLR 0.91
- MetaSVM 0.82
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 0.67
- ClinVar: Pathogenic (Early-infantile DEE)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)