D6H (p.Asp6His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
D6H (p.Asp6His) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D6H (p.Asp6His) variant details
- p.Asp6His
- TOPMed rs1009265867
- gnomAD rs1009265867
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 22.80
- PolyPhen-2 0.94
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available