R51L (p.Arg51Leu) variant of SLC22A5 (O76082)
R51L (p.Arg51Leu) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R51L (p.Arg51Leu) variant details
- p.Arg51Leu
- gnomAD 5-132370124-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.22
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.76
- Population evidence available
- Structural context available
- Literature evidence available