Q19E (p.Gln19Glu) variant of SF3B1 (Splicing factor 3B subunit 1)
Q19E (p.Gln19Glu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q19E (p.Gln19Glu) variant details
- p.Gln19Glu
- cosmic curated COSV59212
- TOPMed rs1222778757
- gnomAD rs1222778757
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.45
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.3e-05)
- Structural context available