A62T (p.Ala62Thr) variant of CD79A (P11912)
A62T (p.Ala62Thr) 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.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- rs782467376
- ClinGen CA9465533
- NCI-TCGA Cosmic COSV5573
- ClinVar RCV001036083
- Uncertain significance
- Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- REVEL 0.18
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.46
- ClinVar: Uncertain significance (Agammaglobulinemia 3, autosomal recessive)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available