A587T (p.Ala587Thr) variant of RECQL4 (ATP-dependent DNA helicase Q4)
A587T (p.Ala587Thr) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes published literature and structural context.
A587T (p.Ala587Thr) variant details
- p.Ala587Thr
- rs1586810759
- ClinGen CA372681046
- ClinVar RCV001035893
- ClinVar RCV005262173
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- AlphaMissense 0.10
- PolyPhen-2 0.88
- EVE 0.49
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)