C8Y (p.Cys8Tyr) variant of RAI1 (Retinoic acid-induced protein 1)
C8Y (p.Cys8Tyr) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
C8Y (p.Cys8Tyr) variant details
- p.Cys8Tyr
- rs1284948039
- ClinGen CA398544580
- ClinVar RCV001963366
- gnomAD rs1284948039
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available