P27L (p.Pro27Leu) variant of SLC22A8 (Organic anion transporter 3)
P27L (p.Pro27Leu) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
P27L (p.Pro27Leu) variant details
- p.Pro27Leu
- ExAC rs748777964
- TOPMed rs748777964
- gnomAD rs748777964
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.54
- MetaLR 0.38
- MetaSVM -0.21
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available