R21L (p.Arg21Leu) variant of SLC47A1 (Q96FL8)
R21L (p.Arg21Leu) in SLC47A1 (Q96FL8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
R21L (p.Arg21Leu) variant details
- p.Arg21Leu
- gnomAD 17-19534001-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0367
- REVEL 0.00
- CADD 4.35
- PolyPhen-2 0.01
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available