P90A (p.Pro90Ala) variant of SMAD2 (SMAD family member 2)
P90A (p.Pro90Ala) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
P90A (p.Pro90Ala) variant details
- p.Pro90Ala
- cosmic curated COSV50992
- ExAC rs756023240
- TOPMed rs756023240
- gnomAD rs756023240
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available