E52D (p.Glu52Asp) variant of SMC3 (Q9UQE7)
E52D (p.Glu52Asp) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E52D (p.Glu52Asp) variant details
- p.Glu52Asp
- gnomAD 10-110575361-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.31
- ESM-1b 1.00
- AlphaMissense 0.51
- CADD 15.50
- PolyPhen-2 0.46
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available