K440N (p.Lys440Asn) variant of RAG2 (P55895)
K440N (p.Lys440Asn) in RAG2 (P55895) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Histiocytic medullary reticulosis; Inborn error of immunity; Recombinase activat. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
K440N (p.Lys440Asn) variant details
- p.Lys440Asn
- rs754413772
- ClinGen CA5950436
- cosmic curated COSV57560
- ClinVar RCV000681593
- Likely pathogenic
- Histiocytic medullary reticulosis; Inborn error of immunity; Recombinase activat
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.64
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.00
- ClinVar: Likely pathogenic (Histiocytic medullary reticulosis; Inborn error of immunity; Rec)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Middle Eastern population (allele frequency 0.022)
- Structural context available