Y101F (p.Tyr101Phe) variant of SF3B1 (Splicing factor 3B subunit 1)
Y101F (p.Tyr101Phe) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Y101F (p.Tyr101Phe) variant details
- p.Tyr101Phe
- TOPMed rs1234164862
- gnomAD rs1234164862
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.69
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available