H85D (p.His85Asp) variant of SF3B1 (Splicing factor 3B subunit 1)
H85D (p.His85Asp) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H85D (p.His85Asp) variant details
- p.His85Asp
- TOPMed rs1183412030
- gnomAD rs1183412030
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available