S19G (p.Ser19Gly) variant of CNTNAP2 (Q9UHC6)
S19G (p.Ser19Gly) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cortical dysplasia-focal epilepsy syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S19G (p.Ser19Gly) variant details
- p.Ser19Gly
- rs1797492098
- ClinGen CA369922081
- ClinVar RCV001336153
- Ensembl rs1797492098
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.23
- CADD 15.50
- PolyPhen-2 0.10
- SIFT 0.34
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available