A26D (p.Ala26Asp) variant of ICOS (Inducible T-cell costimulator)
A26D (p.Ala26Asp) 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 0.21 / 1. The record also includes population frequency data and structural context.
A26D (p.Ala26Asp) variant details
- p.Ala26Asp
- rs761695473
- ClinGen CA2067217
- ClinVar RCV001043605
- ExAC rs761695473
- Uncertain significance
- Immunodeficiency, common variable, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.96
- CADD 21.00
- PolyPhen-2 0.79
- SIFT 0.26
- ClinVar: Uncertain significance (Immunodeficiency, common variable, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0002)
- Structural context available