A12T (p.Ala12Thr) variant of GNAI1 (P63096)
A12T (p.Ala12Thr) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- gnomAD 7-80135194-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- MetaLR 0.63
- MetaSVM 0.12
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available