M4L (p.Met4Leu) variant of FOXG1 (Forkhead box protein G1)
M4L (p.Met4Leu) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M4L (p.Met4Leu) variant details
- p.Met4Leu
- gnomAD rs1466463571
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available