P56L (p.Pro56Leu) variant of IL2RG (P31785)
P56L (p.Pro56Leu) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P56L (p.Pro56Leu) variant details
- p.Pro56Leu
- rs774569887
- ClinGen CA10443916
- ClinVar RCV000386941
- ExAC rs774569887
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.593
- REVEL 0.60
- CADD 23.90
- PolyPhen-2 0.55
- SIFT 0.00
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)