N73D (p.Asn73Asp) variant of CD79B (P40259)
N73D (p.Asn73Asp) 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 0.10 / 1. The record also includes population frequency data and structural context.
N73D (p.Asn73Asp) variant details
- p.Asn73Asp
- rs548645671
- ClinGen CA8708605
- ClinVar RCV002598090
- 1000Genomes rs548645671
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0956
- REVEL 0.12
- CADD 0.07
- PolyPhen-2 0.01
- SIFT 0.69
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- Structural context available