I27N (p.Ile27Asn) variant of IL2RG (P31785)
I27N (p.Ile27Asn) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I27N (p.Ile27Asn) variant details
- p.Ile27Asn
- rs2519648692
- ClinGen CA2580101353
- ClinVar RCV003057666
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.24
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)