R51W (p.Arg51Trp) variant of SLC22A5 (O76082)
R51W (p.Arg51Trp) in SLC22A5 (O76082) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R51W (p.Arg51Trp) variant details
- p.Arg51Trp
- gnomAD rs1751837460
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.50
- CADD 25.10
- PolyPhen-2 0.70
- SIFT 0.18
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available