Q21* (p.Gln21Ter) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q21* (p.Gln21Ter) in RECQL4 (ATP-dependent DNA helicase Q4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Q21* (p.Gln21Ter) variant details
- p.Gln21Ter
- Ensembl rs2130745518
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available