S45T (p.Ser45Thr) variant of CD79A (P11912)
S45T (p.Ser45Thr) 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 0.13 / 1. The record also includes population frequency data and structural context.
S45T (p.Ser45Thr) variant details
- p.Ser45Thr
- rs199603062
- ClinGen CA9465523
- ClinVar RCV001041092
- 1000Genomes rs199603062
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.18
- CADD 0.77
- PolyPhen-2 0.34
- SIFT 0.21
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.01)
- Structural context available