R16S (p.Arg16Ser) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R16S (p.Arg16Ser) 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; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R16S (p.Arg16Ser) variant details
- p.Arg16Ser
- rs1166338293
- ClinGen CA372693812
- ClinVar RCV002775509
- TOPMed rs1166338293
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- CADD 19.40
- PolyPhen-2 0.27
- SIFT 0.16
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.1e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)