E8A (p.Glu8Ala) variant of GNAI1 (P63096)
E8A (p.Glu8Ala) 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.
E8A (p.Glu8Ala) variant details
- p.Glu8Ala
- TOPMed rs1293940480
- gnomAD rs1293940480
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 25.00
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available