V137L (p.Val137Leu) variant of SLC2A2 (P11168)
V137L (p.Val137Leu) 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 0.24 / 1. The record also includes population frequency data and structural context.
V137L (p.Val137Leu) variant details
- p.Val137Leu
- rs144125084
- ClinGen CA2702703
- ClinVar RCV002903800
- ESP rs144125084
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.19
- CADD 4.68
- PolyPhen-2 0.01
- SIFT 0.58
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00025)
- Structural context available