T100I (p.Thr100Ile) variant of SLC22A2 (O15244)
T100I (p.Thr100Ile) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T100I (p.Thr100Ile) variant details
- p.Thr100Ile
- TOPMed rs1227318683
- gnomAD rs1227318683
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- CADD 14.90
- PolyPhen-2 0.28
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available