L14L (p.Leu14Leu) variant of CNTNAP2 (Q9UHC6)
L14L (p.Leu14Leu) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- rs542709358
- gnomAD 7-146116916-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.179
- CADD 9.13
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Literature evidence available