R27P (p.Arg27Pro) variant of SLC47A1 (Q96FL8)
R27P (p.Arg27Pro) 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.
R27P (p.Arg27Pro) variant details
- p.Arg27Pro
- gnomAD 17-19534019-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.072
- REVEL 0.02
- CADD 11.00
- PolyPhen-2 0.00
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available