P180H (p.Pro180His) variant of RAG2 (P55895)
P180H (p.Pro180His) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Rec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes structural context.
P180H (p.Pro180His) variant details
- p.Pro180His
- rs1064793251
- ClinGen CA16619320
- ClinVar RCV000481067
- ClinVar RCV000681583
- Pathogenic/Likely pathogenic
- Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency; Rec
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.78
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.59
- ClinVar: Pathogenic/Likely pathogenic (Atypical severe combined immunodeficiency due to complete RAG1/2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available