L87P (p.Leu87Pro) variant of IL2RG (P31785)
L87P (p.Leu87Pro) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
L87P (p.Leu87Pro) variant details
- p.Leu87Pro
- rs1057520293
- ClinGen CA16608908
- ClinVar RCV000426062
- Ensembl rs1057520293
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- AlphaMissense 0.96
- MetaLR 0.88
- MetaSVM 0.94
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available