T48S (p.Thr48Ser) variant of SLC6A3 (Q01959)
T48S (p.Thr48Ser) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T48S (p.Thr48Ser) variant details
- p.Thr48Ser
- rs1255447387
- ClinGen CA359064816
- ClinVar RCV000592060
- TOPMed rs1255447387
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.14
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.74
- CADD 11.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available