T3M (p.Thr3Met) variant of SLC6A4 (P31645)
T3M (p.Thr3Met) in SLC6A4 (P31645) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
T3M (p.Thr3Met) variant details
- p.Thr3Met
- rs1338210090
- NCI-TCGA Cosmic COSV9991
- cosmic curated COSV99911
- TOPMed rs1338210090
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.85
- CADD 21.70
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.55)
- Structural context available