R19Q (p.Arg19Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R19Q (p.Arg19Gln) 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 Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
R19Q (p.Arg19Gln) variant details
- p.Arg19Gln
- rs1231840928
- ClinGen CA372693765
- ClinVar RCV001303564
- TOPMed rs1231840928
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.29
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)