D41Y (p.Asp41Tyr) variant of RAI1 (Retinoic acid-induced protein 1)
D41Y (p.Asp41Tyr) 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 0.40 / 1. The record also includes population frequency data and structural context.
D41Y (p.Asp41Tyr) variant details
- p.Asp41Tyr
- ExAC rs749428152
- gnomAD rs749428152
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.75
- CADD 27.00
- PolyPhen-2 0.77
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available