A19V (p.Ala19Val) variant of IFNGR2 (Interferon gamma receptor 2)
A19V (p.Ala19Val) in IFNGR2 (Interferon gamma receptor 2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 28. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- rs956427420
- ClinGen CA320132058
- ClinVar RCV000824403
- ClinVar RCV005851626
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 28
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.12
- MetaLR 0.25
- MetaSVM -0.87
- CADD 22.60
- PolyPhen-2 0.96
- SIFT 0.32
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 28)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PAPUANHIGHLANDS population (allele frequency 0.25)
- 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)