N13Y (p.Asn13Tyr) variant of SMAD4 (SMAD family member 4)
N13Y (p.Asn13Tyr) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes structural context.
N13Y (p.Asn13Tyr) variant details
- p.Asn13Tyr
- Ensembl rs1909566487
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.84
- MetaLR 0.93
- MetaSVM 1.06
- CADD 27.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available