I168M (p.Ile168Met) variant of SF3B1 (Splicing factor 3B subunit 1)
I168M (p.Ile168Met) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I168M (p.Ile168Met) variant details
- p.Ile168Met
- TOPMed rs761530701
- gnomAD rs761530701
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.11
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available