C730F (p.Cys730Phe) variant of RAG1 (P15918)
C730F (p.Cys730Phe) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Combined immunodeficiency with skin granulomas; Combined immunodeficiency due to. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
C730F (p.Cys730Phe) variant details
- p.Cys730Phe
- rs770771227
- ClinVar RCV004586278
- ClinVar RCV005040708
- ClinVar RCV006564984
- Pathogenic/Likely pathogenic
- Combined immunodeficiency with skin granulomas; Combined immunodeficiency due to
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Combined immunodeficiency with skin granulomas; Combined immunod)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available