T75M (p.Thr75Met) variant of CD79A (P11912)
T75M (p.Thr75Met) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
T75M (p.Thr75Met) variant details
- p.Thr75Met
- rs199967393
- ClinGen CA9465541
- ClinVar RCV001035807
- 1000Genomes rs199967393
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.11
- CADD 21.50
- PolyPhen-2 0.98
- SIFT 0.03
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:KALASH population (allele frequency 0.024)
- Structural context available