R20Q (p.Arg20Gln) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R20Q (p.Arg20Gln) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R20Q (p.Arg20Gln) variant details
- p.Arg20Gln
- rs990552711
- ClinGen CA372693753
- ClinVar RCV002909596
- ClinVar RCV005473261
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0985
- CADD 3.57
- PolyPhen-2 0.01
- SIFT 0.74
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Baller-Gerold Syndrome. (PMID 20301383)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)