A10T (p.Ala10Thr) variant of CD79A (P11912)
A10T (p.Ala10Thr) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Agammaglobulinemia 3, autosomal recessive. 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.
A10T (p.Ala10Thr) variant details
- p.Ala10Thr
- rs371184689
- ClinGen CA248732
- cosmic curated COSV55739
- ClinVar RCV000120483
- Conflicting interpretations
- not specified; Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.07
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (not specified; Agammaglobulinemia 3, autosomal recessive)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SINDHI population (allele frequency 0.023)
- Structural context available