T60R (p.Thr60Arg) variant of SLC2A1 (P11166)
T60R (p.Thr60Arg) in SLC2A1 (P11166) 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 0.59 / 1. The record also includes population frequency data and structural context.
T60R (p.Thr60Arg) variant details
- p.Thr60Arg
- rs142986731
- ClinGen CA339962199
- ClinVar RCV001091413
- ESP rs142986731
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- REVEL 0.54
- CADD 23.40
- PolyPhen-2 0.55
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in EIG12)
- UniProt: Likely benign (in EIG12)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available