S19N (p.Ser19Asn) variant of CNTNAP2 (Q9UHC6)
S19N (p.Ser19Asn) in CNTNAP2 (Q9UHC6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- gnomAD 7-146116932-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.35
- MetaLR 0.41
- MetaSVM -0.29
- CADD 20.00
- PolyPhen-2 0.15
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available