K4N (p.Lys4Asn) variant of SMC3 (Q9UQE7)
K4N (p.Lys4Asn) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
K4N (p.Lys4Asn) variant details
- p.Lys4Asn
- gnomAD rs1350338348
- Missense
- Variant Prioritization Score for Impact Estimate 0.673
- REVEL 0.69
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available