G57D (p.Gly57Asp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G57D (p.Gly57Asp) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G57D (p.Gly57Asp) variant details
- p.Gly57Asp
- rs2538122819
- ClinGen CA372692627
- ClinVar RCV002578111
- ClinVar RCV005714800
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- CADD 6.16
- PolyPhen-2 0.10
- SIFT 0.45
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- 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)