E6K (p.Glu6Lys) variant of EPAS1 (Q99814)
E6K (p.Glu6Lys) in EPAS1 (Q99814) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E6K (p.Glu6Lys) variant details
- p.Glu6Lys
- rs1558578534
- ClinGen CA346695250
- ClinVar RCV004510895
- TOPMed rs1558578534
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.12
- MetaLR 0.09
- MetaSVM -1.15
- CADD 27.40
- PolyPhen-2 0.88
- SIFT 0.49
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)