E48E (p.Glu48Glu) variant of FOXP2 (Forkhead box protein P2)
E48E (p.Glu48Glu) in FOXP2 (Forkhead box protein P2) is a protein-truncating 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.
E48E (p.Glu48Glu) variant details
- p.Glu48Glu
- gnomAD 7-114498885-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.19
- CADD 10.40
- Most common in the Non-Finnish European population (allele frequency 3.2e-06)
- Structural context available
- Literature evidence available