G231S (p.Gly231Ser) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G231S (p.Gly231Ser) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
G231S (p.Gly231Ser) variant details
- p.Gly231Ser
- rs1001434106
- ClinGen CA187689043
- ClinVar RCV001293693
- ClinVar RCV001871755
- Likely pathogenic
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- CADD 7.55
- PolyPhen-2 0.01
- SIFT 0.73
- ClinVar: Likely pathogenic (Baller-Gerold syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Rothmund-Thomson Syndrome. (PMID 20301415)