R1021W (p.Arg1021Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R1021W (p.Arg1021Trp) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rothmund-Thomson syndrome type 2; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R1021W (p.Arg1021Trp) variant details
- p.Arg1021Trp
- rs137853232
- ClinGen CA253756
- cosmic curated COSV56739
- ClinVar RCV000006445
- Pathogenic
- Rothmund-Thomson syndrome type 2; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.20
- ClinVar: Pathogenic (Rothmund-Thomson syndrome type 2; Baller-Gerold syndrome)
- EBI: Pathogenic (in BGS)
- UniProt: Pathogenic (in BGS)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the… (PMID 15964893)
- Cited in: The mutation spectrum in RECQL4 diseases. (PMID 18716613)