S5A (p.Ser5Ala) variant of SMAD4 (SMAD family member 4)
S5A (p.Ser5Ala) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
S5A (p.Ser5Ala) variant details
- p.Ser5Ala
- Ensembl rs2144400212
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.88
- MetaSVM 0.99
- CADD 25.70
- Structural context available