H6L (p.His6Leu) variant of SLCO1B1 (Q9Y6L6)
H6L (p.His6Leu) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H6L (p.His6Leu) variant details
- p.His6Leu
- gnomAD 12-21141591-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -1.01
- CADD 3.00
- PolyPhen-2 0.03
- SIFT 0.82
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available