N28K (p.Asn28Lys) variant of SMC3 (Q9UQE7)
N28K (p.Asn28Lys) in SMC3 (Q9UQE7) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
N28K (p.Asn28Lys) variant details
- p.Asn28Lys
- rs762983740
- gnomAD 10-110569003-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.858
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available