Q2E (p.Gln2Glu) variant of RAI1 (Retinoic acid-induced protein 1)
Q2E (p.Gln2Glu) 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, published literature, and structural context.
Q2E (p.Gln2Glu) variant details
- p.Gln2Glu
- gnomAD 17-17792952-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.39
- CADD 24.40
- PolyPhen-2 0.62
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available