D68N (p.Asp68Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
D68N (p.Asp68Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- cosmic curated COSV59219
- TOPMed rs1360783408
- gnomAD rs1360783408
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.17
- CADD 23.20
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available