P79L (p.Pro79Leu) variant of SLC22A8 (Organic anion transporter 3)
P79L (p.Pro79Leu) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
P79L (p.Pro79Leu) variant details
- p.Pro79Leu
- 1000Genomes rs554839332
- ExAC rs554839332
- TOPMed rs554839332
- gnomAD rs554839332
- Missense
- Variant Prioritization Score for Impact Estimate 0.148
- REVEL 0.15
- MetaLR 0.33
- MetaSVM -0.74
- CADD 0.92
- PolyPhen-2 0.02
- SIFT 0.10
- Most common in the HGDP:MONGOLIAN population (allele frequency 0.05)
- Structural context available