Q19R (p.Gln19Arg) variant of RAI1 (Retinoic acid-induced protein 1)
Q19R (p.Gln19Arg) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q19R (p.Gln19Arg) variant details
- p.Gln19Arg
- gnomAD 17-17793004-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 23.10
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available