P80L (p.Pro80Leu) variant of IL2RG (P31785)
P80L (p.Pro80Leu) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
P80L (p.Pro80Leu) variant details
- p.Pro80Leu
- rs1343008020
- ClinGen CA413497023
- ClinVar RCV003133702
- ClinVar RCV005099299
- Uncertain significance
- X-linked severe combined immunodeficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.21
- CADD 19.90
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)