H66R (p.His66Arg) variant of SMC3 (Q9UQE7)
H66R (p.His66Arg) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H66R (p.His66Arg) variant details
- p.His66Arg
- TOPMed rs1287384889
- gnomAD rs1287384889
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 1.00
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available