D70E (p.Asp70Glu) variant of RAG1 (P15918)
D70E (p.Asp70Glu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
D70E (p.Asp70Glu) variant details
- p.Asp70Glu
- ExAC rs746746901
- gnomAD rs746746901
- Missense
- Variant Prioritization Score for Impact Estimate 0.1
- REVEL 0.07
- MetaLR 0.10
- MetaSVM -1.02
- CADD 0.03
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.6e-05)
- Structural context available