R3W (p.Arg3Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R3W (p.Arg3Trp) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R3W (p.Arg3Trp) variant details
- p.Arg3Trp
- rs886042531
- ClinGen CA10604361
- ClinVar RCV000314628
- ClinVar RCV001855111
- Uncertain significance
- Baller-Gerold syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.1e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)