F10V (p.Phe10Val) variant of IFNAR2 (Interferon alpha/beta receptor 2)
F10V (p.Phe10Val) in IFNAR2 (Interferon alpha/beta receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Immunodeficiency 45; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data, published literature, and structural context.
F10V (p.Phe10Val) variant details
- p.Phe10Val
- rs1051393
- ClinGen CA10005496
- cosmic curated COSV59747
- ClinVar RCV001523494
- Benign
- Immunodeficiency 45; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0269
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Benign (Immunodeficiency 45; not provided; not specified)
- EBI: Benign (in dbSNP:rs1051393)
- UniProt: Benign (in dbSNP:rs1051393)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Class II cytokine receptor gene cluster is a major locus for hepatitis B persistence. (PMID 16757563)
- Cited in: Soluble and membrane-anchored forms of the human IFN-alpha/beta receptor. (PMID 7759950)