R68C (p.Arg68Cys) variant of CD79A (P11912)
R68C (p.Arg68Cys) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R68C (p.Arg68Cys) variant details
- p.Arg68Cys
- rs782657641
- ClinGen CA9465537
- NCI-TCGA Cosmic COSV9970
- cosmic curated COSV99702
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.17
- CADD 23.00
- PolyPhen-2 0.82
- SIFT 0.04
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.1e-05)
- Structural context available