I122N (p.Ile122Asn) variant of IL2RG (P31785)
I122N (p.Ile122Asn) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes structural context.
I122N (p.Ile122Asn) variant details
- p.Ile122Asn
- rs2147750291
- ClinGen CA413496721
- ClinVar RCV001816542
- Ensembl rs2147750291
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- AlphaMissense 0.64
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.12
- EVE 0.62
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available