N3K (p.Asn3Lys) variant of SMAD4 (SMAD family member 4)
N3K (p.Asn3Lys) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes structural context.
N3K (p.Asn3Lys) variant details
- p.Asn3Lys
- ExAC rs762273127
- TOPMed rs762273127
- gnomAD rs762273127
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- ESM-1b 0.48
- AlphaMissense 0.31
- EBI: Benign
- UniProt: Benign
- Structural context available