S51R (p.Ser51Arg) variant of IL2RG (P31785)
S51R (p.Ser51Arg) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S51R (p.Ser51Arg) variant details
- p.Ser51Arg
- rs2519648029
- ClinGen CA413497226
- ClinVar RCV003623528
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- REVEL 0.22
- CADD 7.45
- PolyPhen-2 0.00
- SIFT 0.09
- 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 1.1e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)