S69G (p.Ser69Gly) variant of CD79B (P40259)
S69G (p.Ser69Gly) 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 0.11 / 1. The record also includes population frequency data and structural context.
S69G (p.Ser69Gly) variant details
- p.Ser69Gly
- rs2144758191
- ClinGen CA400604996
- ClinVar RCV002002730
- Ensembl rs2144758191
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.15
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available