D51V (p.Asp51Val) variant of SMC3 (Q9UQE7)
D51V (p.Asp51Val) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
D51V (p.Asp51Val) variant details
- p.Asp51Val
- gnomAD rs1860932207
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.93
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 31.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available