P79Q (p.Pro79Gln) variant of SLC22A8 (Organic anion transporter 3)
P79Q (p.Pro79Gln) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
P79Q (p.Pro79Gln) variant details
- p.Pro79Gln
- 1000Genomes rs554839332
- ExAC rs554839332
- TOPMed rs554839332
- gnomAD rs554839332
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.34
- MetaLR 0.65
- MetaSVM -0.12
- CADD 16.70
- PolyPhen-2 0.70
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available