E2G (p.Glu2Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E2G (p.Glu2Gly) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E2G (p.Glu2Gly) variant details
- p.Glu2Gly
- rs2130746663
- ClinGen CA372694029
- ClinVar RCV001988209
- Ensembl rs2130746663
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- CADD 26.30
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)