D64N (p.Asp64Asn) variant of ICOS (Inducible T-cell costimulator)
D64N (p.Asp64Asn) 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 0.16 / 1. The record also includes population frequency data and structural context.
D64N (p.Asp64Asn) variant details
- p.Asp64Asn
- rs1215466849
- ClinGen CA350139842
- NCI-TCGA Cosmic COSV5702
- cosmic curated COSV57029
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.163
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.02
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.14
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available