A3P (p.Ala3Pro) variant of RAG1 (P15918)
A3P (p.Ala3Pro) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A3P (p.Ala3Pro) variant details
- p.Ala3Pro
- gnomAD 11-36573311-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.15
- CADD 13.20
- PolyPhen-2 0.04
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available