R19L (p.Arg19Leu) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R19L (p.Arg19Leu) 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.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs1231840928
- ClinGen CA372693759
- ClinVar RCV002838634
- TOPMed rs1231840928
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- CADD 7.34
- PolyPhen-2 0.01
- SIFT 0.66
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.8e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)