P10R (p.Pro10Arg) variant of SMAD4 (SMAD family member 4)
P10R (p.Pro10Arg) 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 0.85 / 1. The record also includes structural context.
P10R (p.Pro10Arg) variant details
- p.Pro10Arg
- Ensembl rs1909566256
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.09
- CADD 27.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available