E8V (p.Glu8Val) variant of GNAI1 (P63096)
E8V (p.Glu8Val) in GNAI1 (P63096) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
E8V (p.Glu8Val) variant details
- p.Glu8Val
- TOPMed rs1293940480
- gnomAD rs1293940480
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- CADD 25.20
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available