D26N (p.Asp26Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
D26N (p.Asp26Asn) 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 not specified. 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.
D26N (p.Asp26Asn) variant details
- p.Asp26Asn
- TOPMed rs1437681259
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.25
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available