D92E (p.Asp92Glu) variant of SMC3 (Q9UQE7)
D92E (p.Asp92Glu) in SMC3 (Q9UQE7) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D92E (p.Asp92Glu) variant details
- p.Asp92Glu
- ExAC rs199936534
- TOPMed rs199936534
- gnomAD rs199936534
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 15.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available