R46G (p.Arg46Gly) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R46G (p.Arg46Gly) 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 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R46G (p.Arg46Gly) variant details
- p.Arg46Gly
- rs1268307700
- ClinGen CA372692744
- ClinVar RCV003615551
- ClinVar RCV005264500
- Uncertain significance
- Baller-Gerold syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 21.30
- PolyPhen-2 0.08
- SIFT 0.01
- ClinVar: Uncertain significance (Baller-Gerold syndrome; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)