M4L (p.Met4Leu) variant of SMAD4 (SMAD family member 4)
M4L (p.Met4Leu) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes structural context.
M4L (p.Met4Leu) variant details
- p.Met4Leu
- cosmic curated COSV10074
- Ensembl rs2144400190
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.48
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.90
- MetaSVM 1.04
- CADD 24.80
- Structural context available