M11T (p.Met11Thr) variant of SLC6A3 (Q01959)
M11T (p.Met11Thr) in SLC6A3 (Q01959) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
M11T (p.Met11Thr) variant details
- p.Met11Thr
- ExAC rs766048614
- gnomAD rs766048614
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- MetaLR 0.22
- MetaSVM -0.88
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available