T57I (p.Thr57Ile) variant of SLC22A8 (Organic anion transporter 3)
T57I (p.Thr57Ile) in SLC22A8 (Organic anion transporter 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. 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.
T57I (p.Thr57Ile) variant details
- p.Thr57Ile
- rs371508112
- ClinGen CA223637786
- ClinVar RCV004451349
- ESP rs371508112
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.05
- CADD 7.20
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available