C9F (p.Cys9Phe) variant of CNTNAP2 (Q9UHC6)
C9F (p.Cys9Phe) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C9F (p.Cys9Phe) variant details
- p.Cys9Phe
- gnomAD 7-146116902-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.27
- MetaLR 0.42
- MetaSVM -0.63
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available