A15G (p.Ala15Gly) variant of SMAD4 (SMAD family member 4)
A15G (p.Ala15Gly) 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 0.77 / 1. The record also includes structural context.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- Ensembl rs2144400485
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.77
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.95
- MetaSVM 1.08
- CADD 27.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available