E8Q (p.Glu8Gln) variant of GNAI1 (P63096)
E8Q (p.Glu8Gln) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
E8Q (p.Glu8Gln) variant details
- p.Glu8Gln
- gnomAD 7-80135182-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- MetaLR 0.64
- MetaSVM 0.12
- CADD 24.80
- PolyPhen-2 0.05
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available