A55F (p.Ala55Phe) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A55F (p.Ala55Phe) 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. The record also includes published literature and structural context.
A55F (p.Ala55Phe) variant details
- p.Ala55Phe
- rs1815354359
- ClinGen CA1826369905
- ClinVar RCV001325327
- Ensembl rs1815354359
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)