M48I (p.Met48Ile) variant of SLCO1B1 (Q9Y6L6)
M48I (p.Met48Ile) 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 0.45 / 1. The record also includes population frequency data and structural context.
M48I (p.Met48Ile) variant details
- p.Met48Ile
- NCI-TCGA Cosmic COSV5701
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.21
- CADD 24.60
- PolyPhen-2 0.84
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available