L13L (p.Leu13Leu) variant of CNTNAP2 (Q9UHC6)
L13L (p.Leu13Leu) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- rs1017715989
- gnomAD 7-146116915-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.108
- CADD 3.90
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available