R16H (p.Arg16His) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R16H (p.Arg16His) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
R16H (p.Arg16His) variant details
- p.Arg16His
- rs1483243361
- ClinGen CA372693805
- ClinVar RCV003617198
- gnomAD rs1483243361
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- CADD 23.60
- PolyPhen-2 0.95
- SIFT 0.04
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.9e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)