E48G (p.Glu48Gly) variant of FOXP2 (Forkhead box protein P2)
E48G (p.Glu48Gly) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- gnomAD rs1202904573
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.44
- CADD 27.20
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available