P7R (p.Pro7Arg) variant of SLC47A1 (Q96FL8)
P7R (p.Pro7Arg) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P7R (p.Pro7Arg) variant details
- p.Pro7Arg
- gnomAD 17-19533959-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.11
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available