T8M (p.Thr8Met) variant of SMAD2 (SMAD family member 2)
T8M (p.Thr8Met) 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 0.64 / 1. The record also includes population frequency data and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs1341462958
- ClinGen CA402503657
- ClinVar RCV002027186
- gnomAD rs1341462958
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.55
- CADD 28.50
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available