L17Q (p.Leu17Gln) variant of SMAD4 (SMAD family member 4)
L17Q (p.Leu17Gln) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
L17Q (p.Leu17Gln) variant details
- p.Leu17Gln
- Ensembl rs2144400546
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.97
- MetaLR 0.94
- MetaSVM 1.09
- CADD 27.80
- Structural context available