E9* (p.Glu9Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E9* (p.Glu9Ter) 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.
E9* (p.Glu9Ter) variant details
- p.Glu9Ter
- rs1035057882
- ClinGen CA372693950
- ClinVar RCV003506850
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)