H8Q (p.His8Gln) variant of SF3B1 (Splicing factor 3B subunit 1)
H8Q (p.His8Gln) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
H8Q (p.His8Gln) variant details
- p.His8Gln
- TOPMed rs1313919387
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available