Y50C (p.Tyr50Cys) variant of RAI1 (Retinoic acid-induced protein 1)
Y50C (p.Tyr50Cys) 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 Inborn genetic diseases; not provided; RAI1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
Y50C (p.Tyr50Cys) variant details
- p.Tyr50Cys
- rs1382756452
- ClinGen CA398544853
- ClinVar RCV002006306
- ClinVar RCV003170409
- Conflicting interpretations
- Inborn genetic diseases; not provided; RAI1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 24.70
- PolyPhen-2 0.99
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; RAI1-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-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)