R43L (p.Arg43Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R43L (p.Arg43Leu) 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 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
R43L (p.Arg43Leu) variant details
- p.Arg43Leu
- rs1169021603
- ClinGen CA372692775
- ClinVar RCV002025178
- gnomAD rs1169021603
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- 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)