Y42* (p.Tyr42Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Y42* (p.Tyr42Ter) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
Y42* (p.Tyr42Ter) variant details
- p.Tyr42Ter
- rs1427556033
- ClinGen CA372692785
- ClinVar RCV001382117
- gnomAD rs1427556033
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)