Q33K (p.Gln33Lys) variant of CNTNAP2 (Q9UHC6)
Q33K (p.Gln33Lys) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q33K (p.Gln33Lys) variant details
- p.Gln33Lys
- rs794726938
- ClinGen CA238892
- ClinVar RCV000173436
- TOPMed rs794726938
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.26
- CADD 21.40
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available