E8K (p.Glu8Lys) variant of GNAI1 (P63096)
E8K (p.Glu8Lys) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- gnomAD 7-80135182-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- MetaLR 0.62
- MetaSVM 0.08
- CADD 25.70
- PolyPhen-2 0.10
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available