I6L (p.Ile6Leu) variant of SMAD4 (SMAD family member 4)
I6L (p.Ile6Leu) 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 0.39 / 1. The record also includes structural context.
I6L (p.Ile6Leu) variant details
- p.Ile6Leu
- gnomAD rs1376500870
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.68
- MetaSVM 0.38
- CADD 23.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available