I62V (p.Ile62Val) variant of SLC37A4 (O43826)
I62V (p.Ile62Val) in SLC37A4 (O43826) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glucose-6-phosphate transport defect. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I62V (p.Ile62Val) variant details
- p.Ile62Val
- Ensembl rs1555191625
- Uncertain significance
- Glucose-6-phosphate transport defect
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- CADD 19.10
- PolyPhen-2 0.98
- SIFT 0.07
- ClinVar: Uncertain significance (Glucose-6-phosphate transport defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available