R5G (p.Arg5Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R5G (p.Arg5Gly) 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 0.40 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- 1000Genomes rs557142503
- TOPMed rs557142503
- gnomAD rs557142503
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- CADD 21.70
- PolyPhen-2 0.53
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available