P54S (p.Pro54Ser) variant of SLC22A2 (O15244)
P54S (p.Pro54Ser) in SLC22A2 (O15244) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P54S (p.Pro54Ser) variant details
- p.Pro54Ser
- rs8177504
- UniProt VAR 039322
- ExAC rs8177504
- TOPMed rs8177504
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.37
- CADD 22.00
- PolyPhen-2 0.49
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 9.6e-05)
- Structural context available
- Cited in: Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function. (PMID 12142729)