S11N (p.Ser11Asn) variant of EPAS1 (Q99814)
S11N (p.Ser11Asn) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S11N (p.Ser11Asn) variant details
- p.Ser11Asn
- rs536627622
- ClinGen CA1644466
- ClinVar RCV002454684
- 1000Genomes rs536627622
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.08
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- 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)