T92R (p.Thr92Arg) variant of SMAD2 (SMAD family member 2)
T92R (p.Thr92Arg) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
T92R (p.Thr92Arg) variant details
- p.Thr92Arg
- TOPMed rs984513669
- gnomAD rs984513669
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.38
- CADD 22.70
- PolyPhen-2 0.20
- SIFT 0.35
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available