R63L (p.Arg63Leu) variant of CD3D (P04234)
R63L (p.Arg63Leu) in CD3D (P04234) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R63L (p.Arg63Leu) variant details
- p.Arg63Leu
- ESP rs374700153
- ExAC rs374700153
- TOPMed rs374700153
- gnomAD rs374700153
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.16
- CADD 15.50
- PolyPhen-2 0.14
- SIFT 0.65
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available