S31W (p.Ser31Trp) variant of CD79B (P40259)
S31W (p.Ser31Trp) 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 0.24 / 1. The record also includes population frequency data and structural context.
S31W (p.Ser31Trp) variant details
- p.Ser31Trp
- rs750544228
- ClinGen CA8708659
- ClinVar RCV001243256
- ExAC rs750544228
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.33
- CADD 9.82
- PolyPhen-2 0.18
- SIFT 0.03
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BEDOUIN population (allele frequency 0.012)
- Structural context available