T75K (p.Thr75Lys) variant of CD79A (P11912)
T75K (p.Thr75Lys) 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 0.23 / 1. The record also includes population frequency data and structural context.
T75K (p.Thr75Lys) variant details
- p.Thr75Lys
- rs199967393
- ClinGen CA406034382
- ClinVar RCV000689793
- 1000Genomes rs199967393
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.13
- CADD 21.30
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available