N40K (p.Asn40Lys) variant of SMC3 (Q9UQE7)
N40K (p.Asn40Lys) in SMC3 (Q9UQE7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
N40K (p.Asn40Lys) variant details
- p.Asn40Lys
- TOPMed rs1182362356
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- Structural context available