T42K (p.Thr42Lys) variant of SLCO1B1 (Q9Y6L6)
T42K (p.Thr42Lys) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T42K (p.Thr42Lys) variant details
- p.Thr42Lys
- gnomAD 12-21172690-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.17
- MetaLR 0.21
- MetaSVM -0.74
- CADD 14.70
- PolyPhen-2 0.19
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available