R2W (p.Arg2Trp) variant of SLC22A5 (O76082)
R2W (p.Arg2Trp) in SLC22A5 (O76082) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R2W (p.Arg2Trp) variant details
- p.Arg2Trp
- ExAC rs762330138
- TOPMed rs762330138
- gnomAD rs762330138
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.38
- CADD 27.20
- PolyPhen-2 0.68
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available