A5T (p.Ala5Thr) variant of SF3B1 (Splicing factor 3B subunit 1)
A5T (p.Ala5Thr) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
A5T (p.Ala5Thr) variant details
- p.Ala5Thr
- cosmic curated COSV59226
- Ensembl rs2106031227
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 19.20
- Population evidence available
- Structural context available