R22T (p.Arg22Thr) variant of SLCO1B1 (Q9Y6L6)
R22T (p.Arg22Thr) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
R22T (p.Arg22Thr) variant details
- p.Arg22Thr
- rs758561937
- ClinGen CA6476545
- NCI-TCGA Cosmic COSV5700
- ClinVar RCV004350429
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.14
- CADD 5.24
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available