R716Q (p.Arg716Gln) variant of RAG1 (P15918)
R716Q (p.Arg716Gln) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
R716Q (p.Arg716Gln) variant details
- p.Arg716Gln
- rs1064793248
- ClinGen CA16619317
- NCI-TCGA Cosmic COSV5502
- ClinVar RCV000483831
- Likely pathogenic
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.83
- CADD 29.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Recombinase activating gene 1 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available