I48R (p.Ile48Arg) variant of MCL1 (Q07820)
I48R (p.Ile48Arg) in MCL1 (Q07820) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
I48R (p.Ile48Arg) variant details
- p.Ile48Arg
- ExAC rs765410863
- TOPMed rs765410863
- gnomAD rs765410863
- Missense
- Variant Prioritization Score for Impact Estimate 0.0546
- REVEL 0.03
- CADD 3.23
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available