S44L (p.Ser44Leu) variant of CD79B (P40259)
S44L (p.Ser44Leu) 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 population frequency data and structural context.
S44L (p.Ser44Leu) variant details
- p.Ser44Leu
- rs868652684
- ClinGen CA292948886
- NCI-TCGA Cosmic COSV5007
- cosmic curated COSV50076
- Uncertain significance
- Agammaglobulinemia 6, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.36
- CADD 24.20
- PolyPhen-2 0.80
- SIFT 0.05
- ClinVar: Uncertain significance (Agammaglobulinemia 6, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available