Y45* (p.Tyr45Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Y45* (p.Tyr45Ter) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y45* (p.Tyr45Ter) variant details
- p.Tyr45Ter
- rs1586833765
- ClinGen CA372692748
- ClinVar RCV002913443
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)