E71D (p.Glu71Asp) variant of MCM2 (P49736)
E71D (p.Glu71Asp) in MCM2 (P49736) 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 0.21 / 1. The record also includes population frequency data and structural context.
E71D (p.Glu71Asp) variant details
- p.Glu71Asp
- rs796576308
- ClinGen CA354381082
- ClinVar RCV003817377
- TOPMed rs796576308
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.11
- MetaLR 0.01
- MetaSVM -0.96
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.57
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available