R20W (p.Arg20Trp) variant of EPAS1 (Q99814)
R20W (p.Arg20Trp) 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.
R20W (p.Arg20Trp) variant details
- p.Arg20Trp
- rs1394833849
- ClinGen CA346696871
- ClinVar RCV003384197
- gnomAD rs1394833849
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.16
- MetaLR 0.16
- MetaSVM -0.80
- CADD 28.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)