S31L (p.Ser31Leu) variant of CD79B (P40259)
S31L (p.Ser31Leu) in CD79B (P40259) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
S31L (p.Ser31Leu) variant details
- p.Ser31Leu
- ExAC rs750544228
- TOPMed rs750544228
- gnomAD rs750544228
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.133
- REVEL 0.19
- CADD 0.35
- PolyPhen-2 0.00
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00073)
- Structural context available