Y35F (p.Tyr35Phe) variant of EPAS1 (Q99814)
Y35F (p.Tyr35Phe) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
Y35F (p.Tyr35Phe) variant details
- p.Tyr35Phe
- rs1477954904
- ClinGen CA346697037
- ClinVar RCV002400992
- gnomAD rs1477954904
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.23
- MetaLR 0.11
- MetaSVM -1.05
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)