M4V (p.Met4Val) variant of FOXG1 (Forkhead box protein G1)
M4V (p.Met4Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M4V (p.Met4Val) variant details
- p.Met4Val
- gnomAD rs1466463571
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.44
- CADD 21.90
- PolyPhen-2 0.09
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4e-05)
- Structural context available