L22S (p.Leu22Ser) variant of CNTNAP2 (Q9UHC6)
L22S (p.Leu22Ser) in CNTNAP2 (Q9UHC6) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L22S (p.Leu22Ser) variant details
- p.Leu22Ser
- gnomAD 7-146116938-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available