A59T (p.Ala59Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
A59T (p.Ala59Thr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A59T (p.Ala59Thr) variant details
- p.Ala59Thr
- cosmic curated COSV10942
- Ensembl rs2085287542
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.25
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.21
- Population evidence available
- Structural context available