L16P (p.Leu16Pro) variant of IL2RG (P31785)
L16P (p.Leu16Pro) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes published literature and structural context.
L16P (p.Leu16Pro) variant details
- p.Leu16Pro
- rs879253742
- ClinGen CA10584017
- ClinVar RCV000234914
- Ensembl rs879253742
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- AlphaMissense 0.34
- MetaLR 0.90
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)