P7H (p.Pro7His) variant of SLC47A1 (Q96FL8)
P7H (p.Pro7His) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P7H (p.Pro7His) variant details
- p.Pro7His
- gnomAD 17-19533959-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.14
- CADD 13.40
- PolyPhen-2 0.34
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available