R46L (p.Arg46Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R46L (p.Arg46Leu) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R46L (p.Arg46Leu) variant details
- p.Arg46Leu
- TOPMed rs1211911104
- gnomAD rs1211911104
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- CADD 24.50
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available