F73L (p.Phe73Leu) variant of KCNQ2 (O43526)
F73L (p.Phe73Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
F73L (p.Phe73Leu) variant details
- p.Phe73Leu
- rs756726844
- ClinGen CA409635143
- ClinVar RCV006560351
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.41
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available