R27T (p.Arg27Thr) variant of SMAD4 (SMAD family member 4)
R27T (p.Arg27Thr) in SMAD4 (SMAD family member 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes structural context.
R27T (p.Arg27Thr) variant details
- p.Arg27Thr
- Ensembl rs2144400769
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.06
- CADD 30.00
- Structural context available