I4F (p.Ile4Phe) variant of SF3B1 (Splicing factor 3B subunit 1)
I4F (p.Ile4Phe) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
I4F (p.Ile4Phe) variant details
- p.Ile4Phe
- Ensembl rs2085501052
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.16
- CADD 24.70
- PolyPhen-2 0.14
- SIFT 0.05
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available