T92M (p.Thr92Met) variant of SMAD2 (SMAD family member 2)
T92M (p.Thr92Met) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
T92M (p.Thr92Met) variant details
- p.Thr92Met
- rs984513669
- ClinGen CA402502381
- cosmic curated COSV51038
- ClinVar RCV002439471
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- REVEL 0.53
- CADD 24.20
- PolyPhen-2 0.49
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)