E67D (p.Glu67Asp) variant of MCM5 (P33992)
E67D (p.Glu67Asp) in MCM5 (P33992) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
E67D (p.Glu67Asp) variant details
- p.Glu67Asp
- rs759149447
- ExAC rs759149447
- TOPMed rs759149447
- gnomAD rs759149447
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.07
- MetaLR 0.18
- MetaSVM -0.82
- CADD 18.80
- PolyPhen-2 0.04
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available