M24L (p.Met24Leu) variant of SMAD4 (SMAD family member 4)
M24L (p.Met24Leu) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
M24L (p.Met24Leu) variant details
- p.Met24Leu
- gnomAD rs876659391
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- ESM-1b 1.00
- AlphaMissense 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available