E32A (p.Glu32Ala) variant of EPAS1 (Q99814)
E32A (p.Glu32Ala) 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 0.35 / 1. The record also includes published literature and structural context.
E32A (p.Glu32Ala) variant details
- p.Glu32Ala
- rs1684041216
- ClinGen CA346697014
- ClinVar RCV002385277
- Ensembl rs1684041216
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.65
- MetaLR 0.14
- MetaSVM -0.90
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.33
- 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)