E36Q (p.Glu36Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E36Q (p.Glu36Gln) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E36Q (p.Glu36Gln) variant details
- p.Glu36Gln
- rs1815402122
- ClinGen CA372693420
- ClinVar RCV001219791
- Ensembl rs1815402122
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- CADD 22.20
- PolyPhen-2 0.22
- SIFT 0.03
- 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)