S63T (p.Ser63Thr) variant of SLC2A2 (P11168)
S63T (p.Ser63Thr) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus; Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S63T (p.Ser63Thr) variant details
- p.Ser63Thr
- rs1373290524
- ClinGen CA355493562
- ClinVar RCV001145064
- ClinVar RCV005029721
- Uncertain significance
- Type 2 diabetes mellitus; Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- CADD 4.76
- PolyPhen-2 0.01
- SIFT 0.43
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)