P23A (p.Pro23Ala) variant of IFNGR2 (Interferon gamma receptor 2)
P23A (p.Pro23Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes published literature and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- rs1439785513
- ClinGen CA410113979
- ClinVar RCV002732263
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- AlphaMissense 0.08
- MetaLR 0.13
- MetaSVM -1.00
- PolyPhen-2 0.01
- SIFT 0.39
- EVE 0.22
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)