R68R (p.Arg68Arg) variant of CD3D (P04234)
R68R (p.Arg68Arg) in CD3D (P04234) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R68R (p.Arg68Arg) variant details
- p.Arg68Arg
- rs111033580
- gnomAD 11-118340447-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.371
- CADD 9.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. (PMID 21883749)
- Cited in: Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3. (PMID 15546002)