R25* (p.Arg25Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R25* (p.Arg25Ter) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R25* (p.Arg25Ter) variant details
- p.Arg25Ter
- rs2130745290
- ClinGen CA372693666
- ClinVar RCV003506860
- Ensembl rs2130745290
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.548
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)