P2R (p.Pro2Arg) variant of SLC2A4 (P14672)
P2R (p.Pro2Arg) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
P2R (p.Pro2Arg) variant details
- p.Pro2Arg
- 1000Genomes rs534248171
- ExAC rs534248171
- TOPMed rs534248171
- gnomAD rs534248171
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.46
- MetaLR 0.44
- MetaSVM -0.25
- CADD 27.30
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the 1KG:BEB population (allele frequency 0.014)
- Structural context available