E48K (p.Glu48Lys) variant of FOXP2 (Forkhead box protein P2)
E48K (p.Glu48Lys) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
E48K (p.Glu48Lys) variant details
- p.Glu48Lys
- ExAC rs779632352
- gnomAD rs779632352
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.27
- CADD 27.40
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.2e-05)
- Structural context available