C40G (p.Cys40Gly) variant of RAI1 (Retinoic acid-induced protein 1)
C40G (p.Cys40Gly) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, 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 0.22 / 1. The record also includes structural context.
C40G (p.Cys40Gly) variant details
- p.Cys40Gly
- rs2508566908
- ClinGen CA398544794
- ClinVar RCV003561613
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- ESM-1b 0.00
- AlphaMissense 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available