C40Y (p.Cys40Tyr) variant of RAI1 (Retinoic acid-induced protein 1)
C40Y (p.Cys40Tyr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
C40Y (p.Cys40Tyr) variant details
- p.Cys40Tyr
- 1000Genomes rs577650444
- ExAC rs577650444
- TOPMed rs577650444
- gnomAD rs577650444
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.77
- CADD 23.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available