I39V (p.Ile39Val) variant of SLC22A8 (Organic anion transporter 3)
I39V (p.Ile39Val) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- gnomAD rs1339492968
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -0.98
- CADD 21.70
- PolyPhen-2 0.03
- SIFT 0.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available