E28K (p.Glu28Lys) variant of GNAI1 (P63096)
E28K (p.Glu28Lys) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
E28K (p.Glu28Lys) variant details
- p.Glu28Lys
- gnomAD 7-80135242-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- MetaLR 0.42
- MetaSVM -0.43
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available