F80I (p.Phe80Ile) variant of RAG2 (P55895)
F80I (p.Phe80Ile) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
F80I (p.Phe80Ile) variant details
- p.Phe80Ile
- rs762369105
- ClinGen CA5950604
- ClinVar RCV001226095
- ExAC rs762369105
- Uncertain significance
- Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.25
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Uncertain significance (Combined immunodeficiency with skin granulomas; Severe combined)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available