G137S (p.Gly137Ser) variant of CD79B (P40259)
G137S (p.Gly137Ser) in CD79B (P40259) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Agammaglobulinemia 6, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
G137S (p.Gly137Ser) variant details
- p.Gly137Ser
- rs121912424
- ClinGen CA124323
- cosmic curated COSV50077
- ClinVar RCV000015925
- Pathogenic
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.84
- CADD 23.60
- PolyPhen-2 0.75
- SIFT 0.04
- ClinVar: Pathogenic (Agammaglobulinemia 6, autosomal recessive)
- EBI: Pathogenic (in AGM6)
- UniProt: Pathogenic (in AGM6)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell… (PMID 17675462)