E437K (p.Glu437Lys) variant of RAG2 (P55895)
E437K (p.Glu437Lys) 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 0.84 / 1. The record also includes population frequency data and structural context.
E437K (p.Glu437Lys) variant details
- p.Glu437Lys
- rs193922573
- ClinGen CA214215
- ClinVar RCV000030397
- ClinVar RCV000413563
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.88
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available