P54T (p.Pro54Thr) variant of SLC22A2 (O15244)
P54T (p.Pro54Thr) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
P54T (p.Pro54Thr) variant details
- p.Pro54Thr
- ExAC rs8177504
- TOPMed rs8177504
- gnomAD rs8177504
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.56
- CADD 23.30
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available