Y84C (p.Tyr84Cys) variant of SF3B1 (Splicing factor 3B subunit 1)
Y84C (p.Tyr84Cys) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Y84C (p.Tyr84Cys) variant details
- p.Tyr84Cys
- Ensembl rs2106011381
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.74
- CADD 29.00
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available