T69K (p.Thr69Lys) variant of SLC2A2 (P11168)
T69K (p.Thr69Lys) 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 0.34 / 1. The record also includes population frequency data and structural context.
T69K (p.Thr69Lys) variant details
- p.Thr69Lys
- rs779977931
- ClinGen CA2702740
- ClinVar RCV000331437
- ExAC rs779977931
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.40
- CADD 4.83
- PolyPhen-2 0.04
- SIFT 0.14
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00033)
- Structural context available