C23Y (p.Cys23Tyr) variant of CNTNAP2 (Q9UHC6)
C23Y (p.Cys23Tyr) 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.
C23Y (p.Cys23Tyr) variant details
- p.Cys23Tyr
- gnomAD 7-146116944-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.52
- MetaLR 0.44
- MetaSVM -0.41
- CADD 20.90
- PolyPhen-2 0.01
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available