C35R (p.Cys35Arg) variant of CNTNAP2 (Q9UHC6)
C35R (p.Cys35Arg) 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 0.80 / 1. The record also includes population frequency data and structural context.
C35R (p.Cys35Arg) variant details
- p.Cys35Arg
- rs753486205
- ClinGen CA4545699
- ClinVar RCV001058449
- ExAC rs753486205
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.91
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available