A64E (p.Ala64Glu) variant of RAG1 (P15918)
A64E (p.Ala64Glu) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
A64E (p.Ala64Glu) variant details
- p.Ala64Glu
- gnomAD 11-36573495-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.02
- CADD 5.36
- PolyPhen-2 0.14
- SIFT 0.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available