S17L (p.Ser17Leu) variant of CD3D (P04234)
S17L (p.Ser17Leu) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- ExAC rs757319080
- gnomAD rs757319080
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.07
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.69
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available