D69E (p.Asp69Glu) variant of SF3B1 (Splicing factor 3B subunit 1)
D69E (p.Asp69Glu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Myelodysplastic syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D69E (p.Asp69Glu) variant details
- p.Asp69Glu
- rs2085234371
- ClinGen CA350206480
- ClinVar RCV002287273
- Ensembl rs2085234371
- Uncertain significance
- Myelodysplastic syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.07
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.44
- ClinVar: Uncertain significance (Myelodysplastic syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available