R46C (p.Arg46Cys) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R46C (p.Arg46Cys) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R46C (p.Arg46Cys) variant details
- p.Arg46Cys
- rs1268307700
- ClinGen CA372692743
- ClinVar RCV000794205
- ClinVar RCV005260388
- Uncertain significance
- Inborn genetic diseases; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)