A12S (p.Ala12Ser) variant of GNAI1 (P63096)
A12S (p.Ala12Ser) 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.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- gnomAD 7-80135194-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- MetaLR 0.60
- MetaSVM 0.02
- CADD 23.10
- PolyPhen-2 0.05
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available