W20L (p.Trp20Leu) variant of CD3E (P07766)
W20L (p.Trp20Leu) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 18. 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.
W20L (p.Trp20Leu) variant details
- p.Trp20Leu
- rs914391006
- ClinGen CA229497380
- cosmic curated COSV10068
- ClinVar RCV001910167
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.23
- MetaLR 0.21
- MetaSVM -0.90
- CADD 22.80
- PolyPhen-2 0.77
- SIFT 0.16
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available