R32H (p.Arg32His) variant of GNAI1 (P63096)
R32H (p.Arg32His) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R32H (p.Arg32His) variant details
- p.Arg32His
- gnomAD 7-80135255-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- MetaLR 0.39
- MetaSVM -0.33
- CADD 27.30
- PolyPhen-2 0.68
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available