G35E (p.Gly35Glu) variant of FOXP1 (Forkhead box protein P1)
G35E (p.Gly35Glu) in FOXP1 (Forkhead box protein P1) 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.
G35E (p.Gly35Glu) variant details
- p.Gly35Glu
- TOPMed rs969304991
- gnomAD rs969304991
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available