I77V (p.Ile77Val) variant of ICOS (Inducible T-cell costimulator)
I77V (p.Ile77Val) 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 Inborn genetic diseases; Immunodeficiency, common variable, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I77V (p.Ile77Val) variant details
- p.Ile77Val
- rs1048198057
- ClinGen CA63851122
- ClinVar RCV001051354
- ClinVar RCV002553250
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.02
- MetaLR 0.06
- MetaSVM -1.04
- CADD 5.12
- PolyPhen-2 0.00
- SIFT 0.37
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-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)