I120F (p.Ile120Phe) variant of SLC22A6 (Q4U2R8)
I120F (p.Ile120Phe) in SLC22A6 (Q4U2R8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
I120F (p.Ile120Phe) variant details
- p.Ile120Phe
- ExAC rs761648281
- gnomAD rs761648281
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.90
- MetaLR 0.73
- MetaSVM 0.60
- CADD 25.90
- PolyPhen-2 0.76
- SIFT 0.01
- Population evidence available
- Structural context available