D30E (p.Asp30Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D30E (p.Asp30Glu) 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 0.45 / 1. The record also includes population frequency data and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- TOPMed rs925971380
- gnomAD rs925971380
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available