D14N (p.Asp14Asn) variant of SMAD4 (SMAD family member 4)
D14N (p.Asp14Asn) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- Ensembl rs2144400451
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.96
- MetaSVM 1.10
- CADD 31.00
- Structural context available