V130A (p.Val130Ala) variant of SLC2A2 (P11168)
V130A (p.Val130Ala) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
V130A (p.Val130Ala) variant details
- p.Val130Ala
- 1000Genomes rs367856967
- ESP rs367856967
- TOPMed rs367856967
- gnomAD rs367856967
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.05
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.31
- Population evidence available
- Structural context available