P42T (p.Pro42Thr) variant of EPAS1 (Q99814)
P42T (p.Pro42Thr) 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 0.43 / 1. The record also includes published literature and structural context.
P42T (p.Pro42Thr) variant details
- p.Pro42Thr
- rs2103616238
- ClinGen CA346697079
- ClinVar RCV003340038
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.98
- MetaLR 0.23
- MetaSVM -0.36
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.79
- 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)