A15D (p.Ala15Asp) variant of SMAD4 (SMAD family member 4)
A15D (p.Ala15Asp) 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 0.85 / 1. The record also includes structural context.
A15D (p.Ala15Asp) variant details
- p.Ala15Asp
- cosmic curated COSV10817
- Ensembl rs2144400485
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.84
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.11
- CADD 28.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available