R16C (p.Arg16Cys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R16C (p.Arg16Cys) 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 0.38 / 1. The record also includes population frequency data and structural context.
R16C (p.Arg16Cys) variant details
- p.Arg16Cys
- TOPMed rs1166338293
- gnomAD rs1166338293
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- CADD 23.20
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.2e-05)
- Structural context available