E50K (p.Glu50Lys) variant of ETFA (P13804)
E50K (p.Glu50Lys) in ETFA (P13804) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs780880209
- ClinGen CA7673854
- ClinVar RCV001997329
- ClinVar RCV003348679
- Uncertain significance
- Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 26.70
- PolyPhen-2 0.14
- SIFT 0.00
- ClinVar: Uncertain significance (Multiple acyl-CoA dehydrogenase deficiency; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- 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)