S53L (p.Ser53Leu) variant of CD3D (P04234)
S53L (p.Ser53Leu) in CD3D (P04234) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S53L (p.Ser53Leu) variant details
- p.Ser53Leu
- gnomAD rs1385094145
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.26
- CADD 8.54
- PolyPhen-2 0.00
- SIFT 0.18
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available