C9R (p.Cys9Arg) variant of CNTNAP2 (Q9UHC6)
C9R (p.Cys9Arg) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C9R (p.Cys9Arg) variant details
- p.Cys9Arg
- gnomAD 7-146116901-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.38
- MetaLR 0.44
- MetaSVM -0.56
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.29
- Population evidence available
- Structural context available
- Literature evidence available