S52S (p.Ser52Ser) variant of SLC22A1 (O15245)
S52S (p.Ser52Ser) in SLC22A1 (O15245) is a synonymous 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.
S52S (p.Ser52Ser) variant details
- p.Ser52Ser
- rs1867351
- gnomAD 6-160122091-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 5.37
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available
- Cited in: PCK1 and SLC22A2 gene variants associated with response to metformin treatment in type 2 diabetes. (PMID 39928707)
- Cited in: Exome Sequence Data of Eight SLC Transporters Reveal That SLC22A1 and SLC22A3 Variants Alter Metformin Pharmacokinetics… (PMID 39459024)