R7G (p.Arg7Gly) variant of RAI1 (Retinoic acid-induced protein 1)
R7G (p.Arg7Gly) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R7G (p.Arg7Gly) variant details
- p.Arg7Gly
- rs201842299
- NCI-TCGA Cosmic COSV9988
- cosmic curated COSV99885
- gnomAD rs201842299
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.89
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.4e-05)
- Structural context available