Q28* (p.Gln28Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q28* (p.Gln28Ter) in RECQL4 (ATP-dependent DNA helicase Q4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- rs794726912
- ClinGen CA274910
- ClinVar RCV000173328
- Ensembl rs794726912
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.08
- CADD 36.00
- PolyPhen-2 0.01
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available