T12S (p.Thr12Ser) variant of SGCD (Delta-sarcoglycan)
T12S (p.Thr12Ser) in SGCD (Delta-sarcoglycan) 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 0.34 / 1. The record also includes published literature and structural context.
T12S (p.Thr12Ser) variant details
- p.Thr12Ser
- rs1768840932
- ClinGen CA362007570
- ClinVar RCV004525329
- TOPMed rs1768840932
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.49
- MetaSVM -0.33
- PolyPhen-2 0.14
- SIFT 0.01
- 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)