I112T (p.Ile112Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
I112T (p.Ile112Thr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
I112T (p.Ile112Thr) variant details
- p.Ile112Thr
- Ensembl rs2085222729
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.72
- CADD 23.90
- PolyPhen-2 0.13
- SIFT 0.00
- Population evidence available
- Structural context available