E32Q (p.Glu32Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
E32Q (p.Glu32Gln) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- rs1815404112
- ClinGen CA372693500
- ClinVar RCV001321879
- Ensembl rs1815404112
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- CADD 19.10
- PolyPhen-2 0.12
- SIFT 0.09
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)