D77N (p.Asp77Asn) variant of IL2RA (P01589)
D77N (p.Asp77Asn) 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 0.31 / 1. The record also includes structural context.
D77N (p.Asp77Asn) variant details
- p.Asp77Asn
- rs1839474866
- ClinGen CA375929896
- ClinVar RCV001047436
- Ensembl rs1839474866
- Uncertain significance
- Immunodeficiency due to CD25 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.11
- MetaLR 0.11
- MetaSVM -1.06
- PolyPhen-2 0.04
- SIFT 0.26
- EVE 0.14
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available