G12V (p.Gly12Val) variant of SLC47A1 (Q96FL8)
G12V (p.Gly12Val) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 17-19533974-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0483
- REVEL 0.01
- CADD 6.47
- PolyPhen-2 0.01
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available