A12A (p.Ala12Ala) variant of CNTNAP2 (Q9UHC6)
A12A (p.Ala12Ala) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
A12A (p.Ala12Ala) variant details
- p.Ala12Ala
- rs1428678213
- gnomAD 7-146116912-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 14.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available