L56F (p.Leu56Phe) variant of SMC3 (Q9UQE7)
L56F (p.Leu56Phe) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
L56F (p.Leu56Phe) variant details
- p.Leu56Phe
- ExAC rs747590114
- gnomAD rs747590114
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available