V197L (p.Val197Leu) variant of SLC2A2 (P11168)
V197L (p.Val197Leu) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi-Bickel syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
V197L (p.Val197Leu) variant details
- p.Val197Leu
- rs121909741
- ClinGen CA355490404
- ClinVar RCV002266019
- ESP rs121909741
- Likely pathogenic
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.66
- CADD 23.70
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi-Bickel syndrome)
- EBI: Likely pathogenic (in NIDDM)
- UniProt: Likely pathogenic (in NIDDM)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available