P90T (p.Pro90Thr) variant of SMAD2 (SMAD family member 2)
P90T (p.Pro90Thr) in SMAD2 (SMAD family member 2) 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 0.36 / 1. The record also includes population frequency data and structural context.
P90T (p.Pro90Thr) variant details
- p.Pro90Thr
- ExAC rs756023240
- TOPMed rs756023240
- gnomAD rs756023240
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.30
- CADD 19.60
- PolyPhen-2 0.06
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available