R46H (p.Arg46His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R46H (p.Arg46His) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R46H (p.Arg46His) variant details
- p.Arg46His
- TOPMed rs1211911104
- gnomAD rs1211911104
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 24.70
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available