C9G (p.Cys9Gly) variant of CNTNAP2 (Q9UHC6)
C9G (p.Cys9Gly) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C9G (p.Cys9Gly) variant details
- p.Cys9Gly
- gnomAD 7-146116901-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.25
- MetaLR 0.43
- MetaSVM -0.59
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available