R8G (p.Arg8Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R8G (p.Arg8Gly) 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 Inborn genetic diseases; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs1554905170
- ClinGen CA372693966
- ClinVar RCV001347199
- ClinVar RCV004960830
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-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)