V48L (p.Val48Leu) variant of CD3D (P04234)
V48L (p.Val48Leu) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
V48L (p.Val48Leu) variant details
- p.Val48Leu
- ExAC rs781625373
- TOPMed rs781625373
- gnomAD rs781625373
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available