R14C (p.Arg14Cys) variant of ICOS (Inducible T-cell costimulator)
R14C (p.Arg14Cys) in ICOS (Inducible T-cell costimulator) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided; Immunodeficiency, common variable, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R14C (p.Arg14Cys) variant details
- p.Arg14Cys
- rs77411896
- ClinGen CA2067192
- ClinVar RCV000508428
- ClinVar RCV001080790
- Benign
- not specified; not provided; Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.12
- MetaLR 0.03
- MetaSVM -1.01
- CADD 23.50
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Benign (not specified; not provided; Immunodeficiency, common variable,)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available