L466F (p.Leu466Phe) variant of RAG2 (P55895)
L466F (p.Leu466Phe) 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 0.76 / 1. The record also includes population frequency data and structural context.
L466F (p.Leu466Phe) variant details
- p.Leu466Phe
- rs1590713653
- ClinGen CA380140455
- ClinVar RCV000806149
- ClinVar RCV001104241
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- MetaLR 0.95
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available