S1079I (p.Ser1079Ile) variant of RECQL4 (ATP-dependent DNA helicase Q4)
S1079I (p.Ser1079Ile) in RECQL4 (ATP-dependent DNA helicase Q4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S1079I (p.Ser1079Ile) variant details
- p.Ser1079Ile
- rs2130657545
- ClinGen CA372669596
- ClinVar RCV001376815
- Ensembl rs2130657545
- Pathogenic
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Baller-Gerold syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)