E21K (p.Glu21Lys) variant of CD19 (B-lymphocyte antigen CD19)
E21K (p.Glu21Lys) in CD19 (B-lymphocyte antigen CD19) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
E21K (p.Glu21Lys) variant details
- p.Glu21Lys
- rs771929657
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10021
- ExAC rs771929657
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -1.03
- CADD 14.80
- PolyPhen-2 0.02
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available