S46N (p.Ser46Asn) variant of EPAS1 (Q99814)
S46N (p.Ser46Asn) 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.
S46N (p.Ser46Asn) variant details
- p.Ser46Asn
- rs1376666026
- ClinGen CA346697105
- ClinVar RCV002381133
- gnomAD rs1376666026
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.09
- MetaLR 0.03
- MetaSVM -1.06
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)