L43L (p.Leu43Leu) variant of CNTNAP2 (Q9UHC6)
L43L (p.Leu43Leu) in CNTNAP2 (Q9UHC6) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L43L (p.Leu43Leu) variant details
- p.Leu43Leu
- rs777706230
- gnomAD 7-146774302-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0971
- CADD 2.32
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available