H160R (p.His160Arg) variant of SF3B1 (Splicing factor 3B subunit 1)
H160R (p.His160Arg) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H160R (p.His160Arg) variant details
- p.His160Arg
- gnomAD rs1401350614
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.13
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available