I112V (p.Ile112Val) variant of SF3B1 (Splicing factor 3B subunit 1)
I112V (p.Ile112Val) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
I112V (p.Ile112Val) variant details
- p.Ile112Val
- ExAC rs746393674
- gnomAD rs746393674
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.02
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available