A5V (p.Ala5Val) variant of SF3B1 (Splicing factor 3B subunit 1)
A5V (p.Ala5Val) 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.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- Ensembl rs2085500932
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- CADD 20.90
- Population evidence available
- Structural context available