E60V (p.Glu60Val) variant of RAG1 (P15918)
E60V (p.Glu60Val) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
E60V (p.Glu60Val) variant details
- p.Glu60Val
- ExAC rs764535849
- TOPMed rs764535849
- gnomAD rs764535849
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.29
- MetaLR 0.45
- MetaSVM -0.47
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.13
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available