K28R (p.Lys28Arg) variant of SLCO1B1 (Q9Y6L6)
K28R (p.Lys28Arg) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K28R (p.Lys28Arg) variant details
- p.Lys28Arg
- gnomAD 12-21141657-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.14
- MetaLR 0.16
- MetaSVM -0.77
- CADD 26.50
- PolyPhen-2 0.52
- SIFT 0.35
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Literature evidence available