M74V (p.Met74Val) variant of SLC2A2 (P11168)
M74V (p.Met74Val) 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 0.10 / 1. The record also includes population frequency data and structural context.
M74V (p.Met74Val) variant details
- p.Met74Val
- rs750405382
- ClinGen CA2702738
- ClinVar RCV002592157
- ExAC rs750405382
- Uncertain significance
- Fanconi-Bickel syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0966
- REVEL 0.12
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.66
- ClinVar: Uncertain significance (Fanconi-Bickel syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available