S3L (p.Ser3Leu) variant of CD3E (P07766)
S3L (p.Ser3Leu) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Immunodeficiency 18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S3L (p.Ser3Leu) variant details
- p.Ser3Leu
- rs771841066
- ClinGen CA6301538
- cosmic curated COSV10527
- ClinVar RCV001844519
- Uncertain significance
- not specified; Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.03
- MetaLR 0.10
- MetaSVM -0.99
- CADD 6.47
- PolyPhen-2 0.01
- SIFT 0.37
- ClinVar: Uncertain significance (not specified; Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available