P27Q (p.Pro27Gln) variant of SLC22A8 (Organic anion transporter 3)
P27Q (p.Pro27Gln) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
P27Q (p.Pro27Gln) variant details
- p.Pro27Gln
- ExAC rs748777964
- TOPMed rs748777964
- gnomAD rs748777964
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.59
- MetaLR 0.47
- MetaSVM 0.05
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available