T60M (p.Thr60Met) variant of CD79B (P40259)
T60M (p.Thr60Met) in CD79B (P40259) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Agammaglobulinemia 6, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
T60M (p.Thr60Met) variant details
- p.Thr60Met
- rs144755516
- ClinGen CA157930
- cosmic curated COSV50081
- ClinVar RCV000120491
- Uncertain significance
- not provided; Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0831
- REVEL 0.10
- CADD 0.31
- PolyPhen-2 0.01
- SIFT 0.21
- ClinVar: Uncertain significance (not provided; Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available