G13D (p.Gly13Asp) variant of SLC47A1 (Q96FL8)
G13D (p.Gly13Asp) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- gnomAD 17-19533977-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0676
- REVEL 0.01
- CADD 9.71
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available