G9A (p.Gly9Ala) variant of IL7R (P16871)
G9A (p.Gly9Ala) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G9A (p.Gly9Ala) variant details
- p.Gly9Ala
- rs776642878
- ClinGen CA3231815
- ClinVar RCV002611780
- ExAC rs776642878
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.09
- CADD 13.50
- PolyPhen-2 0.15
- SIFT 0.33
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available