N31I (p.Asn31Ile) variant of IL2RG (P31785)
N31I (p.Asn31Ile) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
N31I (p.Asn31Ile) variant details
- p.Asn31Ile
- rs749977756
- ClinGen CA413497619
- ClinVar RCV003081644
- ExAC rs749977756
- Benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- MetaLR 0.55
- MetaSVM -0.41
- SIFT 0.00
- MutPred 0.85
- ClinVar: Benign (X-linked severe combined immunodeficiency)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)