M43K (p.Met43Lys) variant of CD79A (P11912)
M43K (p.Met43Lys) 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 0.16 / 1. The record also includes population frequency data and structural context.
M43K (p.Met43Lys) variant details
- p.Met43Lys
- rs782421590
- ClinGen CA9465520
- ClinVar RCV001339065
- ExAC rs782421590
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.01
- CADD 16.80
- PolyPhen-2 0.12
- SIFT 0.03
- 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 2.9e-05)
- Structural context available