P47L (p.Pro47Leu) variant of SLC22A2 (O15244)
P47L (p.Pro47Leu) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
P47L (p.Pro47Leu) variant details
- p.Pro47Leu
- TOPMed rs1181081847
- gnomAD rs1181081847
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.85
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available