E80D (p.Glu80Asp) variant of SLC6A4 (P31645)
E80D (p.Glu80Asp) in SLC6A4 (P31645) 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 0.57 / 1. The record also includes structural context.
E80D (p.Glu80Asp) variant details
- p.Glu80Asp
- NCI-TCGA TCGA novel
- TOPMed rs1906766191
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.22
- MetaLR 0.57
- MetaSVM 0.09
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available