S97L (p.Ser97Leu) variant of SMC3 (Q9UQE7)
S97L (p.Ser97Leu) 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 and structural context.
S97L (p.Ser97Leu) variant details
- p.Ser97Leu
- gnomAD rs1860976121
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.15
- CADD 22.90
- PolyPhen-2 0.23
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available