P44del (p.Pro44del) variant of CNTNAP2 (Q9UHC6)
P44del (p.Pro44del) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
P44del (p.Pro44del) variant details
- gnomAD 7-146774301-TCCC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 14.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available