N73T (p.Asn73Thr) variant of CD79B (P40259)
N73T (p.Asn73Thr) 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 0.08 / 1. The record also includes population frequency data and structural context.
N73T (p.Asn73Thr) variant details
- p.Asn73Thr
- rs200126941
- ClinGen CA157927
- cosmic curated COSV10583
- ClinVar RCV000120490
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0811
- REVEL 0.09
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.0057)
- Structural context available