R7W (p.Arg7Trp) variant of RAI1 (Retinoic acid-induced protein 1)
R7W (p.Arg7Trp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R7W (p.Arg7Trp) variant details
- p.Arg7Trp
- gnomAD rs201842299
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.91
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available