K43R (p.Lys43Arg) variant of ICOS (Inducible T-cell costimulator)
K43R (p.Lys43Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
K43R (p.Lys43Arg) variant details
- p.Lys43Arg
- rs1367837109
- ClinGen CA350139698
- ClinVar RCV001234328
- gnomAD rs1367837109
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.02
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available