Y30C (p.Tyr30Cys) variant of RAI1 (Retinoic acid-induced protein 1)
Y30C (p.Tyr30Cys) in RAI1 (Retinoic acid-induced protein 1) is a missense change. 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.
Y30C (p.Tyr30Cys) variant details
- p.Tyr30Cys
- gnomAD rs1428329084
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.47
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available