I120T (p.Ile120Thr) variant of SLC22A6 (Q4U2R8)
I120T (p.Ile120Thr) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
I120T (p.Ile120Thr) variant details
- p.Ile120Thr
- gnomAD rs1320230227
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.87
- MetaLR 0.71
- MetaSVM 0.49
- CADD 24.30
- PolyPhen-2 0.87
- SIFT 0.06
- Population evidence available
- Structural context available