E48G (p.Glu48Gly) variant of CD79A (P11912)
E48G (p.Glu48Gly) in CD79A (P11912) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
E48G (p.Glu48Gly) variant details
- p.Glu48Gly
- ExAC rs782091793
- gnomAD rs782091793
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.27
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available