V10L (p.Val10Leu) variant of FOXG1 (Forkhead box protein G1)
V10L (p.Val10Leu) 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 0.30 / 1. The record also includes population frequency data and structural context.
V10L (p.Val10Leu) variant details
- p.Val10Leu
- gnomAD rs1235342890
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available