R10G (p.Arg10Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R10G (p.Arg10Gly) 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 0.26 / 1. The record also includes published literature and structural context.
R10G (p.Arg10Gly) variant details
- p.Arg10Gly
- rs757678397
- ClinGen CA372693932
- ClinVar RCV002004756
- ExAC rs757678397
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- AlphaMissense 0.14
- PolyPhen-2 0.90
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)