Y59C (p.Tyr59Cys) variant of RAI1 (Retinoic acid-induced protein 1)
Y59C (p.Tyr59Cys) 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; See cases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Y59C (p.Tyr59Cys) variant details
- p.Tyr59Cys
- rs1240460489
- ClinGen CA398544915
- ClinVar RCV002253128
- ClinVar RCV003126206
- Conflicting interpretations
- Inborn genetic diseases; not provided; See cases
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 23.70
- PolyPhen-2 0.65
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; See cases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)