H85L (p.His85Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
H85L (p.His85Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
H85L (p.His85Leu) variant details
- p.His85Leu
- TOPMed rs1472004245
- gnomAD rs1472004245
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available