C24F (p.Cys24Phe) variant of SLCO1B1 (Q9Y6L6)
C24F (p.Cys24Phe) in SLCO1B1 (Q9Y6L6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C24F (p.Cys24Phe) variant details
- p.Cys24Phe
- rs771380189
- NCI-TCGA Cosmic COSV5701
- ExAC rs771380189
- gnomAD rs771380189
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.26
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available