I18V (p.Ile18Val) variant of SF3B1 (Splicing factor 3B subunit 1)
I18V (p.Ile18Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
I18V (p.Ile18Val) variant details
- p.Ile18Val
- gnomAD rs1301392755
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.19
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available