R57P (p.Arg57Pro) variant of CD79B (P40259)
R57P (p.Arg57Pro) 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 0.49 / 1. The record also includes structural context.
R57P (p.Arg57Pro) variant details
- p.Arg57Pro
- rs746592632
- ClinGen CA400605228
- ClinVar RCV002943104
- cosmic curated COSV50082
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- AlphaMissense 0.55
- MetaLR 0.33
- MetaSVM -0.54
- PolyPhen-2 1.00
- SIFT 0.03
- EVE 0.51
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available