D97H (p.Asp97His) variant of SMAD2 (SMAD family member 2)
D97H (p.Asp97His) 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 0.76 / 1. The record also includes published literature and structural context.
D97H (p.Asp97His) variant details
- p.Asp97His
- rs2144384343
- ClinGen CA402502348
- ClinVar RCV004523809
- Ensembl rs2144384343
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- AlphaMissense 0.40
- MetaLR 0.84
- MetaSVM 0.78
- PolyPhen-2 0.99
- SIFT 0.04
- MutPred 0.44
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)