R405G (p.Arg405Gly) variant of RAG1 (P15918)
R405G (p.Arg405Gly) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R405G (p.Arg405Gly) variant details
- p.Arg405Gly
- rs1564988958
- ClinVar RCV000766115
- ClinVar RCV005407943
- Ensembl rs1564988958
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.585
- REVEL 0.78
- MetaLR 0.50
- MetaSVM 0.05
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available