P2L (p.Pro2Leu) variant of SLC2A4 (P14672)
P2L (p.Pro2Leu) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
P2L (p.Pro2Leu) variant details
- p.Pro2Leu
- 1000Genomes rs534248171
- ExAC rs534248171
- TOPMed rs534248171
- gnomAD rs534248171
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.45
- MetaLR 0.24
- MetaSVM -0.56
- CADD 24.50
- PolyPhen-2 0.17
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 0.00025)
- Structural context available