R39L (p.Arg39Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R39L (p.Arg39Leu) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
R39L (p.Arg39Leu) variant details
- p.Arg39Leu
- rs1815399637
- ClinGen CA372693355
- ClinVar RCV001362740
- Ensembl rs1815399637
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- CADD 24.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.4e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)