N63S (p.Asn63Ser) variant of CD79A (P11912)
N63S (p.Asn63Ser) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
N63S (p.Asn63Ser) variant details
- p.Asn63Ser
- rs151224661
- ClinGen CA9465534
- cosmic curated COSV55738
- ClinVar RCV000801006
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.21
- CADD 16.30
- PolyPhen-2 0.59
- SIFT 0.08
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available