E30D (p.Glu30Asp) variant of CD19 (B-lymphocyte antigen CD19)
E30D (p.Glu30Asp) in CD19 (B-lymphocyte antigen CD19) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
E30D (p.Glu30Asp) variant details
- p.Glu30Asp
- ExAC rs769495907
- TOPMed rs769495907
- gnomAD rs769495907
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.21
- MetaLR 0.08
- MetaSVM -0.95
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available