R19G (p.Arg19Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R19G (p.Arg19Gly) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R19G (p.Arg19Gly) variant details
- p.Arg19Gly
- rs1401366375
- ClinGen CA372693771
- ClinVar RCV001307586
- gnomAD rs1401366375
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- CADD 13.30
- PolyPhen-2 0.01
- SIFT 0.33
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)