A45P (p.Ala45Pro) variant of RAG1 (P15918)
A45P (p.Ala45Pro) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A45P (p.Ala45Pro) variant details
- p.Ala45Pro
- gnomAD 11-36573437-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.25
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available