D67E (p.Asp67Glu) variant of SF3B1 (Splicing factor 3B subunit 1)
D67E (p.Asp67Glu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D67E (p.Asp67Glu) variant details
- p.Asp67Glu
- ESP rs148227154
- ExAC rs148227154
- TOPMed rs148227154
- gnomAD rs148227154
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.14
- CADD 18.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available