S27G (p.Ser27Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
S27G (p.Ser27Gly) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
S27G (p.Ser27Gly) variant details
- p.Ser27Gly
- rs1815426930
- ClinGen CA372693629
- ClinVar RCV003865797
- ClinVar RCV005715080
- Conflicting interpretations
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 8.14
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 5.7e-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)