S27N (p.Ser27Asn) variant of RECQL4 (ATP-dependent DNA helicase Q4)
S27N (p.Ser27Asn) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S27N (p.Ser27Asn) variant details
- p.Ser27Asn
- rs1815426587
- ClinGen CA372693623
- ClinVar RCV001239331
- TOPMed rs1815426587
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 0.33
- PolyPhen-2 0.04
- SIFT 0.94
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)