R26C (p.Arg26Cys) variant of RAI1 (Retinoic acid-induced protein 1)
R26C (p.Arg26Cys) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R26C (p.Arg26Cys) variant details
- p.Arg26Cys
- rs376964045
- ClinGen CA8418033
- ClinVar RCV001619211
- ClinVar RCV001821931
- Conflicting interpretations
- not provided; not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.68
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-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)