D51E (p.Asp51Glu) variant of SMC3 (Q9UQE7)
D51E (p.Asp51Glu) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D51E (p.Asp51Glu) variant details
- p.Asp51Glu
- gnomAD 10-110575358-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.75
- ESM-1b 0.00
- AlphaMissense 0.87
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available