M1L (p.Met1Leu) variant of FOXG1 (Forkhead box protein G1)
M1L (p.Met1Leu) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes published literature and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1168923100
- ClinGen CA389474152
- ClinVar RCV001876562
- ClinVar RCV005628920
- Uncertain significance
- not provided; FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- MetaLR 0.75
- MetaSVM 0.16
- PolyPhen-2 0.10
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (not provided; FOXG1 disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)