L87Q (p.Leu87Gln) variant of SMAD2 (SMAD family member 2)
L87Q (p.Leu87Gln) 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 0.66 / 1. The record also includes published literature and structural context.
L87Q (p.Leu87Gln) variant details
- p.Leu87Gln
- rs779006352
- ClinGen CA402502412
- ClinVar RCV004523807
- ClinVar RCV005100524
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- AlphaMissense 0.12
- MetaLR 0.82
- MetaSVM 0.59
- PolyPhen-2 0.97
- SIFT 0.39
- MutPred 0.47
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- 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)