G12C (p.Gly12Cys) variant of RAI1 (Retinoic acid-induced protein 1)
G12C (p.Gly12Cys) 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 0.37 / 1. The record also includes structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- rs1598086557
- ClinGen CA398544608
- ClinVar RCV003578878
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.48
- MetaSVM 0.04
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available