S16L (p.Ser16Leu) variant of CD3E (P07766)
S16L (p.Ser16Leu) in CD3E (P07766) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
S16L (p.Ser16Leu) variant details
- p.Ser16Leu
- rs1472836910
- NCI-TCGA Cosmic COSV6234
- cosmic curated COSV62345
- TOPMed rs1472836910
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.01
- CADD 18.70
- PolyPhen-2 0.02
- SIFT 0.65
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available