H85R (p.His85Arg) variant of SF3B1 (Splicing factor 3B subunit 1)
H85R (p.His85Arg) 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.
H85R (p.His85Arg) variant details
- p.His85Arg
- TOPMed rs1472004245
- gnomAD rs1472004245
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.15
- CADD 22.50
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available