Q2R (p.Gln2Arg) variant of CNTNAP2 (Q9UHC6)
Q2R (p.Gln2Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
Q2R (p.Gln2Arg) variant details
- p.Gln2Arg
- rs1797490798
- ClinGen CA369921982
- ClinVar RCV001219582
- Ensembl rs1797490798
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.21
- CADD 13.70
- PolyPhen-2 0.01
- SIFT 0.52
- ClinVar: Uncertain significance (Cortical dysplasia-focal epilepsy syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available