P65L (p.Pro65Leu) variant of IL2RB (P14784)
P65L (p.Pro65Leu) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Immunodeficiency 63 with lymphoproliferation and autoimmunity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
P65L (p.Pro65Leu) variant details
- p.Pro65Leu
- rs371340355
- ClinGen CA10216729
- ClinVar RCV001332608
- ClinVar RCV002546583
- Uncertain significance
- not provided; Immunodeficiency 63 with lymphoproliferation and autoimmunity
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- REVEL 0.34
- CADD 20.40
- PolyPhen-2 0.87
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Immunodeficiency 63 with lymphoproliferation and a)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)