T45R (p.Thr45Arg) variant of SLC22A1 (O15245)
T45R (p.Thr45Arg) in SLC22A1 (O15245) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
T45R (p.Thr45Arg) variant details
- p.Thr45Arg
- 1000Genomes rs190270215
- ExAC rs190270215
- TOPMed rs190270215
- gnomAD rs190270215
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.58
- CADD 10.10
- PolyPhen-2 0.10
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available