V10M (p.Val10Met) variant of FOXG1 (Forkhead box protein G1)
V10M (p.Val10Met) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V10M (p.Val10Met) variant details
- p.Val10Met
- rs1235342890
- gnomAD rs1235342890
- Conflicting interpretations
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.10
- CADD 23.30
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (FOXG1 disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.7e-05)
- Structural context available