Y70* (p.Tyr70Ter) variant of SF3B1 (Splicing factor 3B subunit 1)
Y70* (p.Tyr70Ter) in SF3B1 (Splicing factor 3B subunit 1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Y70* (p.Tyr70Ter) variant details
- p.Tyr70Ter
- Ensembl rs2085234275
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.467
- CADD 35.00
- Population evidence available
- Structural context available