R68Q (p.Arg68Gln) variant of CD3D (P04234)
R68Q (p.Arg68Gln) in CD3D (P04234) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R68Q (p.Arg68Gln) variant details
- p.Arg68Gln
- TOPMed rs199795476
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.19
- CADD 22.70
- PolyPhen-2 0.96
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available