R20W (p.Arg20Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R20W (p.Arg20Trp) 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 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs1564812906
- ClinGen CA372693755
- ClinVar RCV000688447
- Ensembl rs1564812906
- Uncertain significance
- Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- CADD 23.00
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Uncertain significance (Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)