D16H (p.Asp16His) variant of RAG1 (P15918)
D16H (p.Asp16His) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
D16H (p.Asp16His) variant details
- p.Asp16His
- ExAC rs766458077
- TOPMed rs766458077
- gnomAD rs766458077
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.21
- MetaLR 0.23
- MetaSVM -0.40
- CADD 22.60
- PolyPhen-2 0.13
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available