A111V (p.Ala111Val) variant of SLC2A2 (P11168)
A111V (p.Ala111Val) 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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
A111V (p.Ala111Val) variant details
- p.Ala111Val
- gnomAD rs1716034660
- Uncertain significance
- Type 2 diabetes mellitus; Fanconi-Bickel syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- REVEL 0.49
- CADD 26.30
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Uncertain significance (Type 2 diabetes mellitus; Fanconi-Bickel syndrome; Inborn geneti)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available