V84I (p.Val84Ile) variant of CTLA4 (Cytotoxic T-lymphocyte protein 4)
V84I (p.Val84Ile) in CTLA4 (Cytotoxic T-lymphocyte protein 4) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
V84I (p.Val84Ile) variant details
- p.Val84Ile
- rs1422926559
- ClinGen CA350138381
- ClinVar RCV004374919
- TOPMed rs1422926559
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- AlphaMissense 0.08
- MetaLR 0.09
- MetaSVM -1.01
- PolyPhen-2 0.03
- SIFT 0.27
- EVE 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)