N63I (p.Asn63Ile) variant of CD79A (P11912)
N63I (p.Asn63Ile) 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 0.30 / 1. The record also includes population frequency data and structural context.
N63I (p.Asn63Ile) variant details
- p.Asn63Ile
- rs151224661
- ClinGen CA406034302
- ClinVar RCV002662680
- 1000Genomes rs151224661
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.30
- CADD 22.40
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available