G47E (p.Gly47Glu) variant of VSIR (Q9H7M9)
G47E (p.Gly47Glu) in VSIR (Q9H7M9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G47E (p.Gly47Glu) variant details
- p.Gly47Glu
- TOPMed rs1249756031
- gnomAD rs1249756031
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.78
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available