S53P (p.Ser53Pro) variant of IFNAR2 (Interferon alpha/beta receptor 2)
S53P (p.Ser53Pro) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Immunodeficiency 45. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
S53P (p.Ser53Pro) variant details
- p.Ser53Pro
- rs1987287426
- ClinGen CA410095635
- ClinVar RCV001813168
- ClinVar RCV002284216
- Conflicting interpretations
- not provided; Immunodeficiency 45
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.53
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Immunodeficiency 45)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- Cited in: Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. (PMID 35442417)