P10T (p.Pro10Thr) variant of SMAD4 (SMAD family member 4)
P10T (p.Pro10Thr) 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 0.62 / 1. The record also includes structural context.
P10T (p.Pro10Thr) variant details
- p.Pro10Thr
- Ensembl rs2144400339
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- REVEL 0.58
- ESM-1b 0.63
- AlphaMissense 0.85
- MetaLR 0.87
- MetaSVM 0.71
- CADD 23.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available