A30V (p.Ala30Val) variant of GNAI1 (P63096)
A30V (p.Ala30Val) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
A30V (p.Ala30Val) variant details
- p.Ala30Val
- gnomAD 7-80135249-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- MetaLR 0.60
- MetaSVM 0.02
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available