E39G (p.Glu39Gly) variant of SLC6A4 (P31645)
E39G (p.Glu39Gly) 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 0.20 / 1. The record also includes population frequency data and structural context.
E39G (p.Glu39Gly) variant details
- p.Glu39Gly
- rs752079357
- ExAC rs752079357
- gnomAD rs752079357
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.04
- CADD 16.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available