Q76E (p.Gln76Glu) variant of SLC6A4 (P31645)
Q76E (p.Gln76Glu) 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 0.21 / 1. The record also includes population frequency data and structural context.
Q76E (p.Gln76Glu) variant details
- p.Gln76Glu
- rs1243133079
- NCI-TCGA Cosmic COSV5556
- cosmic curated COSV55566
- TOPMed rs1243133079
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.19
- MetaSVM -1.06
- CADD 7.96
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available