R68H (p.Arg68His) variant of CD79A (P11912)
R68H (p.Arg68His) in CD79A (P11912) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Agammaglobulinemia 3, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R68H (p.Arg68His) variant details
- p.Arg68His
- rs782507150
- ClinGen CA9465538
- NCI-TCGA Cosmic COSV5573
- cosmic curated COSV55739
- Conflicting interpretations
- not provided; Agammaglobulinemia 3, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.0963
- REVEL 0.10
- CADD 3.90
- PolyPhen-2 0.01
- SIFT 0.31
- ClinVar: Conflicting classifications of pathogenicity (not provided; Agammaglobulinemia 3, autosomal recessive)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available