I58V (p.Ile58Val) variant of SF3B1 (Splicing factor 3B subunit 1)
I58V (p.Ile58Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
I58V (p.Ile58Val) variant details
- p.Ile58Val
- ExAC rs768672179
- TOPMed rs768672179
- gnomAD rs768672179
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.16
- CADD 23.30
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available