S52R (p.Ser52Arg) variant of SLC22A1 (O15245)
S52R (p.Ser52Arg) in SLC22A1 (O15245) 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.
S52R (p.Ser52Arg) variant details
- p.Ser52Arg
- 1000Genomes rs1867351
- ESP rs1867351
- ExAC rs1867351
- TOPMed rs1867351
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.44
- CADD 21.00
- PolyPhen-2 0.46
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available