P4A (p.Pro4Ala) variant of SLC47A1 (Q96FL8)
P4A (p.Pro4Ala) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
P4A (p.Pro4Ala) variant details
- p.Pro4Ala
- gnomAD 17-19533949-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0335
- REVEL 0.02
- CADD 0.97
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available