L81S (p.Leu81Ser) variant of CD79A (P11912)
L81S (p.Leu81Ser) 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 0.09 / 1. The record also includes population frequency data and structural context.
L81S (p.Leu81Ser) variant details
- p.Leu81Ser
- rs2074205887
- ClinGen CA406034424
- ClinVar RCV003045436
- Ensembl rs2074205887
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0911
- REVEL 0.06
- CADD 8.73
- PolyPhen-2 0.17
- SIFT 0.32
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available