R32Q (p.Arg32Gln) variant of SLC47A1 (Q96FL8)
R32Q (p.Arg32Gln) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
R32Q (p.Arg32Gln) variant details
- p.Arg32Gln
- gnomAD 17-19534034-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.04
- CADD 18.60
- PolyPhen-2 0.06
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available