Q33E (p.Gln33Glu) variant of CNTNAP2 (Q9UHC6)
Q33E (p.Gln33Glu) 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 0.39 / 1. The record also includes population frequency data and structural context.
Q33E (p.Gln33Glu) variant details
- p.Gln33Glu
- rs794726938
- ClinGen CA369922169
- ClinVar RCV003043193
- TOPMed rs794726938
- Uncertain significance
- Cortical dysplasia-focal epilepsy syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.26
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.32
- 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