S97P (p.Ser97Pro) variant of SMC3 (Q9UQE7)
S97P (p.Ser97Pro) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S97P (p.Ser97Pro) variant details
- p.Ser97Pro
- TOPMed rs1860976083
- gnomAD rs1860976083
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.79
- CADD 23.50
- PolyPhen-2 0.02
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available