E23Q (p.Glu23Gln) variant of RAI1 (Retinoic acid-induced protein 1)
E23Q (p.Glu23Gln) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E23Q (p.Glu23Gln) variant details
- p.Glu23Gln
- rs1376549670
- NCI-TCGA Cosmic COSV9988
- cosmic curated COSV99883
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.38
- CADD 25.10
- PolyPhen-2 0.48
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available