A30D (p.Ala30Asp) variant of SLC47A1 (Q96FL8)
A30D (p.Ala30Asp) 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.
A30D (p.Ala30Asp) variant details
- p.Ala30Asp
- gnomAD 17-19534028-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0513
- REVEL 0.01
- CADD 5.16
- PolyPhen-2 0.00
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available