R26W (p.Arg26Trp) variant of ERCC2 (P18074)
R26W (p.Arg26Trp) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R26W (p.Arg26Trp) variant details
- p.Arg26Trp
- rs933045867
- ClinGen CA308975159
- ClinVar RCV002400584
- TOPMed rs933045867
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.34
- CADD 24.60
- PolyPhen-2 0.34
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- 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)