R51H (p.Arg51His) variant of CD79B (P40259)
R51H (p.Arg51His) in CD79B (P40259) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 6, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
R51H (p.Arg51His) variant details
- p.Arg51His
- rs1401272877
- ClinGen CA400605412
- cosmic curated COSV10799
- ClinVar RCV002001339
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.39
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available