E14D (p.Glu14Asp) variant of MAX (Protein max)
E14D (p.Glu14Asp) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
E14D (p.Glu14Asp) variant details
- p.Glu14Asp
- cosmic curated COSV52415
- TOPMed rs1350578690
- gnomAD rs1350578690
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.24
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.53
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available