P4R (p.Pro4Arg) variant of SLC47A1 (Q96FL8)
P4R (p.Pro4Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
P4R (p.Pro4Arg) variant details
- p.Pro4Arg
- gnomAD 17-19533950-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0579
- REVEL 0.01
- CADD 9.77
- PolyPhen-2 0.01
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available