G13C (p.Gly13Cys) variant of SLC47A1 (Q96FL8)
G13C (p.Gly13Cys) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G13C (p.Gly13Cys) variant details
- p.Gly13Cys
- gnomAD 17-19533976-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.05
- CADD 15.00
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available