W28R (p.Trp28Arg) variant of RAG1 (P15918)
W28R (p.Trp28Arg) in RAG1 (P15918) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Recombinase activating gene 1 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
W28R (p.Trp28Arg) variant details
- p.Trp28Arg
- rs1274599533
- ClinGen CA380145403
- ClinVar RCV001046637
- ClinVar RCV004765344
- Uncertain significance
- Recombinase activating gene 1 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.71
- MetaLR 0.70
- MetaSVM 0.50
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Recombinase activating gene 1 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available