C446W (p.Cys446Trp) variant of RAG2 (P55895)
C446W (p.Cys446Trp) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 2 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
C446W (p.Cys446Trp) variant details
- p.Cys446Trp
- rs1564995660
- ClinGen CA380140584
- ClinVar RCV000681596
- ClinVar RCV002283492
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.80
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available