T20S (p.Thr20Ser) variant of MEF2C (Q06413)
T20S (p.Thr20Ser) in MEF2C (Q06413) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes published literature and structural context.
T20S (p.Thr20Ser) variant details
- p.Thr20Ser
- rs1554139870
- ClinGen CA360425220
- ClinVar RCV000624618
- Ensembl rs1554139870
- Likely pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- AlphaMissense 1.00
- MetaLR 0.86
- MetaSVM 0.94
- PolyPhen-2 0.99
- SIFT 0.00
- EVE 1.00
- ClinVar: Likely pathogenic (Inborn genetic diseases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)