P33R (p.Pro33Arg) variant of RAI1 (Retinoic acid-induced protein 1)
P33R (p.Pro33Arg) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P33R (p.Pro33Arg) variant details
- p.Pro33Arg
- gnomAD 17-17793046-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 17.40
- PolyPhen-2 0.15
- SIFT 0.59
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available