A139T (p.Ala139Thr) variant of SLC2A2 (P11168)
A139T (p.Ala139Thr) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A139T (p.Ala139Thr) variant details
- p.Ala139Thr
- rs2473906662
- ClinGen CA355491706
- ClinVar RCV002581837
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.51
- CADD 23.40
- PolyPhen-2 0.39
- SIFT 0.03
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available