E48V (p.Glu48Val) variant of FOXP2 (Forkhead box protein P2)
E48V (p.Glu48Val) in FOXP2 (Forkhead box protein P2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E48V (p.Glu48Val) variant details
- p.Glu48Val
- rs1797440604
- gnomAD 7-114498884-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- CADD 15.60
- SIFT 0.50
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available
- Literature evidence available