L4P (p.Leu4Pro) variant of IL7R (P16871)
L4P (p.Leu4Pro) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
L4P (p.Leu4Pro) variant details
- p.Leu4Pro
- rs1759658576
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10028
- ClinGen CA359425625
- Uncertain significance
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.28
- MetaLR 0.59
- MetaSVM 0.35
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.48
- ClinVar: Uncertain significance (Immunodeficiency 104)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available