I127L (p.Ile127Leu) variant of SF3B1 (Splicing factor 3B subunit 1)
I127L (p.Ile127Leu) in SF3B1 (Splicing factor 3B subunit 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
I127L (p.Ile127Leu) variant details
- p.Ile127Leu
- ExAC rs765373981
- gnomAD rs765373981
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available