R43W (p.Arg43Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R43W (p.Arg43Trp) 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; not provided; Baller-Gerold syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
R43W (p.Arg43Trp) variant details
- p.Arg43Trp
- rs761113605
- ClinGen CA4949477
- ClinVar RCV000469456
- ClinVar RCV002272240
- Uncertain significance
- Inborn genetic diseases; not provided; Baller-Gerold syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Baller-Gerold syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0002)
- 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)