F30I (p.Phe30Ile) variant of SLCO1B1 (Q9Y6L6)
F30I (p.Phe30Ile) in SLCO1B1 (Q9Y6L6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
F30I (p.Phe30Ile) variant details
- p.Phe30Ile
- gnomAD 12-21172653-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.61
- MetaLR 0.32
- MetaSVM -0.29
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available