K34K (p.Lys34Lys) variant of CNTNAP2 (Q9UHC6)
K34K (p.Lys34Lys) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K34K (p.Lys34Lys) variant details
- p.Lys34Lys
- rs779436784
- gnomAD 7-146774275-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.226
- CADD 8.47
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available