E8D (p.Glu8Asp) variant of GNAI1 (P63096)
E8D (p.Glu8Asp) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
E8D (p.Glu8Asp) variant details
- p.Glu8Asp
- gnomAD 7-80135184-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- MetaLR 0.47
- MetaSVM -0.47
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available