P90S (p.Pro90Ser) variant of SMAD2 (SMAD family member 2)
P90S (p.Pro90Ser) in SMAD2 (SMAD family member 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
P90S (p.Pro90Ser) variant details
- p.Pro90Ser
- rs756023240
- ClinGen CA8956319
- ClinVar RCV001969323
- ExAC rs756023240
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.30
- CADD 18.80
- PolyPhen-2 0.04
- SIFT 0.71
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available