T86S (p.Thr86Ser) variant of SLC2A2 (P11168)
T86S (p.Thr86Ser) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar 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 0.11 / 1. The record also includes population frequency data and structural context.
T86S (p.Thr86Ser) variant details
- p.Thr86Ser
- ExAC rs766762468
- TOPMed rs766762468
- gnomAD rs766762468
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.14
- CADD 0.29
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available