Y70C (p.Tyr70Cys) variant of SF3B1 (Splicing factor 3B subunit 1)
Y70C (p.Tyr70Cys) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y70C (p.Tyr70Cys) variant details
- p.Tyr70Cys
- ESP rs368842371
- ExAC rs368842371
- TOPMed rs368842371
- gnomAD rs368842371
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.15
- CADD 23.40
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available