A7A (p.Ala7Ala) variant of CNTNAP2 (Q9UHC6)
A7A (p.Ala7Ala) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A7A (p.Ala7Ala) variant details
- p.Ala7Ala
- rs1380843777
- gnomAD 7-146116897-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.279
- CADD 14.40
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available