G12D (p.Gly12Asp) variant of RAI1 (Retinoic acid-induced protein 1)
G12D (p.Gly12Asp) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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 structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs2143001443
- ClinGen CA398544610
- ClinVar RCV002036658
- Ensembl rs2143001443
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- ESM-1b 0.00
- AlphaMissense 0.77
- MetaLR 0.51
- MetaSVM 0.12
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available