E17D (p.Glu17Asp) variant of SF3B1 (Splicing factor 3B subunit 1)
E17D (p.Glu17Asp) 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.
E17D (p.Glu17Asp) variant details
- p.Glu17Asp
- TOPMed rs1297538547
- gnomAD rs1297538547
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.14
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the East Asian population (allele frequency 0.00038)
- Structural context available