W14* (p.Trp14Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
W14* (p.Trp14Ter) 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 0.83 / 1. The record also includes population frequency data and structural context.
W14* (p.Trp14Ter) variant details
- p.Trp14Ter
- Ensembl rs1815435906
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.829
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available