P29L (p.Pro29Leu) variant of IL2RA (P01589)
P29L (p.Pro29Leu) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P29L (p.Pro29Leu) variant details
- p.Pro29Leu
- rs148505161
- ClinGen CA5397547
- ClinVar RCV001309313
- ESP rs148505161
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.37
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.03
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.3e-05)
- Structural context available