E180D (p.Glu180Asp) variant of SMC1A (Q14683)
E180D (p.Glu180Asp) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E180D (p.Glu180Asp) variant details
- p.Glu180Asp
- TOPMed rs1450248187
- gnomAD rs1450248187
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.78
- MetaLR 0.23
- MetaSVM -0.82
- CADD 21.60
- Most common in the Ashkenazi Jewish population (allele frequency 0.00038)
- Structural context available