R27Q (p.Arg27Gln) variant of SLC47A1 (Q96FL8)
R27Q (p.Arg27Gln) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
R27Q (p.Arg27Gln) variant details
- p.Arg27Gln
- gnomAD 17-19534019-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0779
- REVEL 0.03
- CADD 8.98
- PolyPhen-2 0.14
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available