W416L (p.Trp416Leu) variant of RAG2 (P55895)
W416L (p.Trp416Leu) 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 0.89 / 1. The record also includes population frequency data and structural context.
W416L (p.Trp416Leu) variant details
- p.Trp416Leu
- rs193922572
- ClinGen CA214212
- cosmic curated COSV10966
- ClinVar RCV000030396
- Likely pathogenic
- Recombinase activating gene 2 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- CADD 26.90
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 2 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available