K42R (p.Lys42Arg) variant of IL2RA (P01589)
K42R (p.Lys42Arg) 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; Type 1 diabetes mellitus 10. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K42R (p.Lys42Arg) variant details
- p.Lys42Arg
- rs142016545
- ClinGen CA5397541
- ClinVar RCV001321225
- ClinVar RCV002476506
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; Type 1 diabetes mellitus 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.20
- CADD 18.00
- PolyPhen-2 0.98
- SIFT 0.08
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; Type 1 diabetes mellitu)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available