R34L (p.Arg34Leu) variant of RAG1 (P15918)
R34L (p.Arg34Leu) in RAG1 (P15918) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- ESP rs377307948
- ExAC rs377307948
- TOPMed rs377307948
- gnomAD rs377307948
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.46
- MetaLR 0.38
- MetaSVM -0.22
- CADD 24.00
- PolyPhen-2 0.38
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available