A33T (p.Ala33Thr) variant of SLC2A2 (P11168)
A33T (p.Ala33Thr) 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 0.64 / 1. The record also includes population frequency data and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs143528640
- ClinGen CA2702770
- ClinVar RCV002993738
- ESP rs143528640
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.636
- REVEL 0.60
- CADD 26.00
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available