S20N (p.Ser20Asn) variant of CNTNAP2 (Q9UHC6)
S20N (p.Ser20Asn) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S20N (p.Ser20Asn) variant details
- p.Ser20Asn
- Ensembl rs886062048
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.32
- CADD 21.30
- PolyPhen-2 0.12
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available