G57S (p.Gly57Ser) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G57S (p.Gly57Ser) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
G57S (p.Gly57Ser) variant details
- p.Gly57Ser
- rs1060501373
- ClinGen CA16612564
- ClinVar RCV000463422
- ClinVar RCV004955503
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 12.80
- PolyPhen-2 0.24
- SIFT 0.34
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- 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)