N13K (p.Asn13Lys) variant of SMAD4 (SMAD family member 4)
N13K (p.Asn13Lys) 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 0.99 / 1. The record also includes structural context.
N13K (p.Asn13Lys) variant details
- p.Asn13Lys
- ESP rs376371717
- ExAC rs376371717
- TOPMed rs376371717
- gnomAD rs376371717
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- ESM-1b 1.00
- AlphaMissense 0.98
- EBI: Benign
- UniProt: Benign
- Structural context available