H160N (p.His160Asn) variant of SF3B1 (Splicing factor 3B subunit 1)
H160N (p.His160Asn) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
H160N (p.His160Asn) variant details
- p.His160Asn
- ExAC rs747533615
- gnomAD rs747533615
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.05
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9.9e-06)
- Structural context available