L50P (p.Leu50Pro) variant of SLC2A2 (P11168)
L50P (p.Leu50Pro) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L50P (p.Leu50Pro) variant details
- p.Leu50Pro
- TOPMed rs1211075508
- gnomAD rs1211075508
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.30
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.16
- Population evidence available
- Structural context available