T17I (p.Thr17Ile) variant of SLC47A1 (Q96FL8)
T17I (p.Thr17Ile) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- gnomAD 17-19533989-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0329
- REVEL 0.01
- CADD 0.54
- PolyPhen-2 0.05
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available