V10A (p.Val10Ala) variant of FOXG1 (Forkhead box protein G1)
V10A (p.Val10Ala) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
V10A (p.Val10Ala) variant details
- p.Val10Ala
- Ensembl rs1881772519
- Uncertain significance
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.09
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Uncertain significance (FOXG1 disorder)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available