R8W (p.Arg8Trp) variant of RECQL4 (ATP-dependent DNA helicase Q4)
R8W (p.Arg8Trp) 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 Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Baller-Gerold syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1554905170
- ClinGen CA372693964
- ClinVar RCV000634304
- ClinVar RCV005260260
- Uncertain significance
- Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Baller-Gerold syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 23.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Rothmund-Thomson syndrome type 2; Inborn genetic diseases; Balle)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.9e-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)