G49R (p.Gly49Arg) variant of CD3D (P04234)
G49R (p.Gly49Arg) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- cosmic curated COSV52674
- gnomAD rs1261128177
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.24
- CADD 16.90
- PolyPhen-2 0.46
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available