Y26H (p.Tyr26His) variant of SLC2A2 (P11168)
Y26H (p.Tyr26His) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes published literature and structural context.
Y26H (p.Tyr26His) variant details
- p.Tyr26His
- rs1716265568
- ClinGen CA355480625
- ClinVar RCV001329195
- Ensembl rs1716265568
- Uncertain significance
- Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- AlphaMissense 0.68
- MetaLR 0.55
- MetaSVM 0.29
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (Type 2 diabetes mellitus)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)