L46P (p.Leu46Pro) variant of CD79A (P11912)
L46P (p.Leu46Pro) 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 0.10 / 1. The record also includes population frequency data and structural context.
L46P (p.Leu46Pro) variant details
- p.Leu46Pro
- rs2074204859
- ClinGen CA406034182
- ClinVar RCV001325286
- Ensembl rs2074204859
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.07
- CADD 11.80
- PolyPhen-2 0.01
- SIFT 0.20
- 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 5.4e-06)
- Structural context available