K19E (p.Lys19Glu) variant of SLCO1B1 (Q9Y6L6)
K19E (p.Lys19Glu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
K19E (p.Lys19Glu) variant details
- p.Lys19Glu
- gnomAD 12-21141629-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.01
- CADD 7.13
- PolyPhen-2 0.01
- SIFT 0.96
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available