G24V (p.Gly24Val) variant of ICOS (Inducible T-cell costimulator)
G24V (p.Gly24Val) in ICOS (Inducible T-cell costimulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency, common variable, 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- rs774325808
- ClinGen CA2067216
- ClinVar RCV001220471
- ClinVar RCV002562508
- Uncertain significance
- Immunodeficiency, common variable, 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -0.95
- CADD 16.20
- PolyPhen-2 0.65
- SIFT 0.51
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)