Q28E (p.Gln28Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q28E (p.Gln28Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes published literature and structural context.
Q28E (p.Gln28Glu) variant details
- p.Gln28Glu
- rs794726912
- ClinGen CA372693610
- ClinVar RCV003616433
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.08
- PolyPhen-2 0.01
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)