N8K (p.Asn8Lys) variant of SMAD4 (SMAD family member 4)
N8K (p.Asn8Lys) 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 0.95 / 1. The record also includes structural context.
N8K (p.Asn8Lys) variant details
- p.Asn8Lys
- TOPMed rs1909566006
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.954
- ESM-1b 1.00
- AlphaMissense 0.90
- EBI: Benign
- UniProt: Benign
- Structural context available