P86T (p.Pro86Thr) variant of CD79B (P40259)
P86T (p.Pro86Thr) 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 0.19 / 1. The record also includes population frequency data and structural context.
P86T (p.Pro86Thr) variant details
- p.Pro86Thr
- rs1908041476
- ClinGen CA400604819
- ClinVar RCV002726941
- Ensembl rs1908041476
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.23
- CADD 7.34
- PolyPhen-2 0.81
- SIFT 0.40
- 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 1.8e-06)
- Structural context available