G8D (p.Gly8Asp) variant of CNTNAP2 (Q9UHC6)
G8D (p.Gly8Asp) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
G8D (p.Gly8Asp) variant details
- p.Gly8Asp
- gnomAD 7-146116899-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.43
- MetaLR 0.45
- MetaSVM -0.46
- CADD 22.10
- PolyPhen-2 0.17
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available