R72S (p.Arg72Ser) variant of SLC22A8 (Organic anion transporter 3)
R72S (p.Arg72Ser) in SLC22A8 (Organic anion transporter 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R72S (p.Arg72Ser) variant details
- p.Arg72Ser
- ExAC rs755172993
- TOPMed rs755172993
- gnomAD rs755172993
- Missense
- Variant Prioritization Score for Impact Estimate 0.09
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -0.99
- CADD 0.95
- PolyPhen-2 0.01
- SIFT 0.55
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available