A14D (p.Ala14Asp) variant of RAG1 (P15918)
A14D (p.Ala14Asp) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A14D (p.Ala14Asp) variant details
- p.Ala14Asp
- gnomAD 11-36573345-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.26
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available