R50S (p.Arg50Ser) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R50S (p.Arg50Ser) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R50S (p.Arg50Ser) variant details
- p.Arg50Ser
- TOPMed rs1325079305
- gnomAD rs1325079305
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- CADD 14.40
- PolyPhen-2 0.23
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.2e-05)
- Structural context available