R19* (p.Arg19Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R19* (p.Arg19Ter) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R19* (p.Arg19Ter) variant details
- p.Arg19Ter
- rs1401366375
- ClinGen CA372693767
- ClinVar RCV001388955
- gnomAD rs1401366375
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)