N60S (p.Asn60Ser) variant of CD79A (P11912)
N60S (p.Asn60Ser) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
N60S (p.Asn60Ser) variant details
- p.Asn60Ser
- rs370313642
- ClinGen CA9465531
- cosmic curated COSV10959
- ClinVar RCV001300381
- Uncertain significance
- not specified; Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0904
- REVEL 0.10
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not specified; Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00034)
- Structural context available