L24R (p.Leu24Arg) variant of SLC22A5 (O76082)
L24R (p.Leu24Arg) in SLC22A5 (O76082) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
L24R (p.Leu24Arg) variant details
- p.Leu24Arg
- rs775502377
- gnomAD 5-132370042-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.455
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available