I48M (p.Ile48Met) variant of MCL1 (Q07820)
I48M (p.Ile48Met) in MCL1 (Q07820) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
I48M (p.Ile48Met) variant details
- p.Ile48Met
- TOPMed rs1647980280
- gnomAD rs1647980280
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.06
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available