D6E (p.Asp6Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D6E (p.Asp6Glu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- TOPMed rs1168671636
- gnomAD rs1168671636
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0859
- CADD 1.02
- PolyPhen-2 0.15
- SIFT 1.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available