A30E (p.Ala30Glu) variant of GNAI1 (P63096)
A30E (p.Ala30Glu) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
A30E (p.Ala30Glu) variant details
- p.Ala30Glu
- gnomAD 7-80135249-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- MetaLR 0.52
- MetaSVM -0.19
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available