N13I (p.Asn13Ile) variant of SMAD4 (SMAD family member 4)
N13I (p.Asn13Ile) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes structural context.
N13I (p.Asn13Ile) variant details
- p.Asn13Ile
- ExAC rs281875323
- TOPMed rs281875323
- gnomAD rs281875323
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- ESM-1b 1.00
- AlphaMissense 0.85
- MetaLR 0.93
- MetaSVM 1.07
- CADD 26.80
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available