A125V (p.Ala125Val) variant of SLC22A8 (Organic anion transporter 3)
A125V (p.Ala125Val) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A125V (p.Ala125Val) variant details
- p.Ala125Val
- cosmic curated COSV10884
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.32
- MetaLR 0.27
- MetaSVM -0.45
- CADD 25.90
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available