A27D (p.Ala27Asp) variant of IL17RA (Interleukin-17 receptor A)
A27D (p.Ala27Asp) in IL17RA (Interleukin-17 receptor A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 51. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- rs1490955421
- ClinGen CA410210201
- ClinVar RCV000803689
- TOPMed rs1490955421
- Uncertain significance
- Immunodeficiency 51
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.05
- MetaLR 0.02
- MetaSVM -0.98
- CADD 15.90
- PolyPhen-2 0.19
- SIFT 0.24
- ClinVar: Uncertain significance (Immunodeficiency 51)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available