S19C (p.Ser19Cys) variant of CNTNAP2 (Q9UHC6)
S19C (p.Ser19Cys) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
S19C (p.Ser19Cys) variant details
- p.Ser19Cys
- gnomAD 7-146116931-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.28
- MetaLR 0.42
- MetaSVM -0.48
- CADD 17.50
- PolyPhen-2 0.38
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available