N33D (p.Asn33Asp) variant of IL2RG (P31785)
N33D (p.Asn33Asp) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
N33D (p.Asn33Asp) variant details
- p.Asn33Asp
- rs2519648648
- ClinGen CA413497605
- ClinVar RCV002580618
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.39
- CADD 25.20
- PolyPhen-2 0.24
- SIFT 0.01
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)