R24H (p.Arg24His) variant of SLC47A1 (Q96FL8)
R24H (p.Arg24His) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R24H (p.Arg24His) variant details
- p.Arg24His
- gnomAD 17-19534010-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.85
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available