L102V (p.Leu102Val) variant of SLC2A1 (P11166)
L102V (p.Leu102Val) in SLC2A1 (P11166) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Encephalopathy due to GLUT1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
L102V (p.Leu102Val) variant details
- p.Leu102Val
- gnomAD rs1451513110
- Uncertain significance
- Encephalopathy due to GLUT1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.55
- CADD 23.30
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Uncertain significance (Encephalopathy due to GLUT1 deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available