R27L (p.Arg27Leu) variant of SLC47A1 (Q96FL8)
R27L (p.Arg27Leu) 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.
R27L (p.Arg27Leu) variant details
- p.Arg27Leu
- gnomAD 17-19534019-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0702
- REVEL 0.03
- CADD 9.09
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available