N304K (p.Asn304Lys) variant of SMC1A (Q14683)
N304K (p.Asn304Lys) in SMC1A (Q14683) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes structural context.
N304K (p.Asn304Lys) variant details
- p.Asn304Lys
- ExAC rs782636844
- gnomAD rs782636844
- Missense
- Variant Prioritization Score for Impact Estimate 0.948
- ESM-1b 1.00
- AlphaMissense 0.89
- Structural context available