G58E (p.Gly58Glu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
G58E (p.Gly58Glu) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
G58E (p.Gly58Glu) variant details
- p.Gly58Glu
- rs1008942429
- ClinGen CA187690981
- ClinVar RCV003056619
- Ensembl rs1008942429
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- CADD 9.18
- PolyPhen-2 0.03
- SIFT 0.34
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)