L134P (p.Leu134Pro) variant of SLC22A8 (Organic anion transporter 3)
L134P (p.Leu134Pro) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
L134P (p.Leu134Pro) variant details
- p.Leu134Pro
- gnomAD rs1318964190
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.81
- MetaLR 0.68
- MetaSVM 0.49
- CADD 27.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available