I6S (p.Ile6Ser) variant of SMAD4 (SMAD family member 4)
I6S (p.Ile6Ser) 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 0.38 / 1. The record also includes structural context.
I6S (p.Ile6Ser) variant details
- p.Ile6Ser
- Ensembl rs1599181007
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.28
- MetaLR 0.67
- MetaSVM 0.16
- CADD 24.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available