R24S (p.Arg24Ser) variant of SLC47A1 (Q96FL8)
R24S (p.Arg24Ser) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- gnomAD 17-19534009-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.175
- REVEL 0.12
- CADD 12.80
- PolyPhen-2 0.26
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available