D34N (p.Asp34Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
D34N (p.Asp34Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
D34N (p.Asp34Asn) variant details
- p.Asp34Asn
- rs890785458
- NCI-TCGA Cosmic COSV5921
- cosmic curated COSV59212
- TOPMed rs890785458
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.20
- CADD 22.50
- PolyPhen-2 0.02
- SIFT 0.30
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available