A7D (p.Ala7Asp) variant of CNTNAP2 (Q9UHC6)
A7D (p.Ala7Asp) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A7D (p.Ala7Asp) variant details
- p.Ala7Asp
- gnomAD 7-146116896-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.33
- MetaLR 0.45
- MetaSVM -0.52
- CADD 20.50
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available