R54W (p.Arg54Trp) variant of RAD21 (O60216)
R54W (p.Arg54Trp) in RAD21 (O60216) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; RAD21-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs2130479466
- ClinGen CA372011012
- NCI-TCGA Cosmic COSV5206
- ClinVar RCV003397389
- Conflicting interpretations
- Inborn genetic diseases; RAD21-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.65
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; RAD21-related disorder; not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)