C23F (p.Cys23Phe) variant of CNTNAP2 (Q9UHC6)
C23F (p.Cys23Phe) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
C23F (p.Cys23Phe) variant details
- p.Cys23Phe
- gnomAD 7-146116944-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.50
- MetaLR 0.42
- MetaSVM -0.44
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.39
- Population evidence available
- Structural context available
- Literature evidence available