A12V (p.Ala12Val) variant of GNAI1 (P63096)
A12V (p.Ala12Val) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 7-80135195-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- MetaLR 0.75
- MetaSVM 0.78
- CADD 23.60
- PolyPhen-2 0.29
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available