E52D (p.Glu52Asp) variant of MCL1 (Q07820)
E52D (p.Glu52Asp) in MCL1 (Q07820) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.13
- CADD 9.47
- PolyPhen-2 0.29
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available