V45A (p.Val45Ala) variant of SLC2A2 (P11168)
V45A (p.Val45Ala) in SLC2A2 (P11168) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V45A (p.Val45Ala) variant details
- p.Val45Ala
- ESP rs149108283
- ExAC rs149108283
- TOPMed rs149108283
- gnomAD rs149108283
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.19
- CADD 14.40
- PolyPhen-2 0.03
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available