D51N (p.Asp51Asn) variant of RAG1 (P15918)
D51N (p.Asp51Asn) 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.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- ESP rs373615697
- ExAC rs373615697
- TOPMed rs373615697
- gnomAD rs373615697
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.10
- MetaLR 0.16
- MetaSVM -0.93
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.51
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available