N61I (p.Asn61Ile) variant of CD79A (P11912)
N61I (p.Asn61Ile) 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 0.13 / 1. The record also includes population frequency data and structural context.
N61I (p.Asn61Ile) variant details
- p.Asn61Ile
- rs2074205317
- ClinGen CA406034290
- ClinVar RCV001313454
- Ensembl rs2074205317
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.126
- REVEL 0.11
- CADD 10.10
- PolyPhen-2 0.66
- SIFT 0.19
- 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 9e-07)
- Structural context available