A57A (p.Ala57Ala) variant of FOXP2 (Forkhead box protein P2)
A57A (p.Ala57Ala) in FOXP2 (Forkhead box protein P2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A57A (p.Ala57Ala) variant details
- p.Ala57Ala
- rs1304678917
- gnomAD 7-114534619-T-C
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 14.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available