S22T (p.Ser22Thr) variant of CD79A (P11912)
S22T (p.Ser22Thr) 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 0.42 / 1. The record also includes structural context.
S22T (p.Ser22Thr) variant details
- p.Ser22Thr
- rs1600629998
- ClinGen CA406032179
- ClinVar RCV000822533
- TOPMed rs1600629998
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- AlphaMissense 0.10
- MetaLR 0.36
- MetaSVM -0.70
- PolyPhen-2 0.99
- SIFT 0.06
- MutPred 0.54
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available