Q12E (p.Gln12Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
Q12E (p.Gln12Glu) 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 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q12E (p.Gln12Glu) variant details
- p.Gln12Glu
- rs2130746066
- ClinGen CA372693903
- ClinVar RCV002861456
- Ensembl rs2130746066
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- CADD 22.30
- PolyPhen-2 0.56
- SIFT 0.02
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)