N8Y (p.Asn8Tyr) variant of SMAD4 (SMAD family member 4)
N8Y (p.Asn8Tyr) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
N8Y (p.Asn8Tyr) variant details
- p.Asn8Tyr
- Ensembl rs2144400281
- Missense
- Variant Prioritization Score for Impact Estimate 0.751
- REVEL 0.75
- ESM-1b 1.00
- AlphaMissense 0.64
- MetaLR 0.90
- MetaSVM 1.00
- CADD 27.00
- Structural context available