E104K (p.Glu104Lys) variant of SMC1A (Q14683)
E104K (p.Glu104Lys) in SMC1A (Q14683) 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 0.71 / 1. The record also includes published literature and structural context.
E104K (p.Glu104Lys) variant details
- p.Glu104Lys
- rs2075726145
- ClinGen CA413131856
- ClinVar RCV001267109
- Ensembl rs2075726145
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- ESM-1b 1.00
- AlphaMissense 0.95
- MetaLR 0.54
- MetaSVM 0.32
- PolyPhen-2 1.00
- SIFT 0.00
- 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)