D36V (p.Asp36Val) variant of CNTNAP2 (Q9UHC6)
D36V (p.Asp36Val) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
D36V (p.Asp36Val) variant details
- p.Asp36Val
- ESP rs371991891
- TOPMed rs371991891
- gnomAD rs371991891
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- REVEL 0.76
- CADD 27.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available