D51Y (p.Asp51Tyr) variant of RAG1 (P15918)
D51Y (p.Asp51Tyr) 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 0.21 / 1. The record also includes population frequency data and structural context.
D51Y (p.Asp51Tyr) variant details
- p.Asp51Tyr
- ESP rs373615697
- ExAC rs373615697
- TOPMed rs373615697
- gnomAD rs373615697
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.07
- MetaLR 0.23
- MetaSVM -0.78
- CADD 20.50
- PolyPhen-2 0.08
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available