A69T (p.Ala69Thr) variant of RAG1 (P15918)
A69T (p.Ala69Thr) in RAG1 (P15918) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
A69T (p.Ala69Thr) variant details
- p.Ala69Thr
- gnomAD 11-36573509-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.03
- CADD 7.38
- PolyPhen-2 0.02
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available