E84K (p.Glu84Lys) variant of CD79B (P40259)
E84K (p.Glu84Lys) in CD79B (P40259) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Agammaglobulinemia 6, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- rs373082402
- ClinGen CA8708600
- ClinVar RCV000687195
- ClinVar RCV005532728
- Conflicting interpretations
- not specified; Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- REVEL 0.16
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.99
- ClinVar: Conflicting classifications of pathogenicity (not specified; Agammaglobulinemia 6, autosomal recessive)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available