H104L (p.His104Leu) variant of IL2RG (P31785)
H104L (p.His104Leu) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H104L (p.His104Leu) variant details
- p.His104Leu
- rs770804846
- ClinGen CA10443890
- ClinVar RCV001240284
- ExAC rs770804846
- Likely benign
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.67
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.08
- ClinVar: Likely benign (X-linked severe combined immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)