Y152F (p.Tyr152Phe) variant of SF3B1 (Splicing factor 3B subunit 1)
Y152F (p.Tyr152Phe) 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.
Y152F (p.Tyr152Phe) variant details
- p.Tyr152Phe
- Ensembl rs1559274216
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.12
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available