R24W (p.Arg24Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R24W (p.Arg24Trp) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R24W (p.Arg24Trp) variant details
- p.Arg24Trp
- rs1586835635
- ClinGen CA372693676
- ClinVar RCV001992259
- Ensembl rs1586835635
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5.6e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)